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Results for the Protein: P20936
121743

RASA1_HUMAN RecName: Full=Ras GTPase-activating protein 1; Short=GAP; Short=GTPase-activating protein; Short=RasGAP; AltName: Full=Ras p21 protein activator; AltName: Full=p120GAP

Known Diseases associated with this Protein:
  BASAL CELL CARCINOMA, SOMATIC
  CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION
  CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
  CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (CMAVM)
6
3
5
0
4
Tips:
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Default View:

SH2 - smart00252
SH2 - cd00173
SH2 - pfam00017
SH3 - smart00326
SH3 - cd00174
SH3_1 - pfam00018
PH - smart00233
PH - pfam00169
PH_PKB - cd01241
PH_Btk - cd01238
- cd01246
PH_Sbf1_hMTMR5 - cd01235
PH-like - cd00900
PH - cd00821
- cd01245
PH_GRP1-like - cd01252
C2_SynGAP_like - cd04013
C2_Ras_p21A1 - cd08400
C2_fungal_Inn1p-like - cd08681
C2A_RasGAP - cd08383
C2 - smart00239
C2 - cd00030
C2 - pfam00168
RasGAP_CLA2_BUD2 - cd05137
RasGAP_RASA3 - cd05134
RasGAP - smart00323
RasGAP_RASAL - cd05135
RasGAP_GAP1_like - cd05128
RasGAP_p120GAP - cd05391
RasGAP_DAB2IP - cd05136
RasGAP_Neurofibromin - cd05130
RasGAP - cd04519
RasGAP_Neurofibromin - cd05392
RasGAP_RASA2 - cd05394
RasGAP_RASA4 - cd05395
RasGAP_RAP6 - cd05129
RasGAP_IQGAP_like - cd05127
RasGAP_GAPA - cd05132
RasGAP - pfam00616


Swiss-Prot Protein: P20936
Identical to: NP_002881
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH3cd001745.9e-11283338
SH2cd001733.1e-28350441
PH_PKBcd012410.00075475576
PH_Btkcd012380.00029476575
PHcd008211.6e-18477575
PH-likecd009001.7e-11477575
PH_Sbf1_hMTMR5cd012350.00045477576
cd012451.2e-56477575
PH_GRP1-likecd012524.6e-05477581
cd012463.8e-08477575
C2_SynGAP_likecd040133.6e-06583720
C2_Ras_p21A1cd084001.7e-93591716
C2_fungal_Inn1p-likecd086810.00033594712
C2A_RasGAPcd083832.3e-66595712
C2cd000307.7e-14596692
RasGAP_CLA2_BUD2cd051376.8e-166711015
RasGAP_RASA3cd051349.4e-086931031
RasGAP_RASALcd051352.7e-127141013
RasGAPcd045193.8e-967211035
RasGAP_GAP1_likecd051288.5e-237211030
RasGAP_Neurofibromincd051305.4e-177211036
RasGAP_DAB2IPcd051363e-177211031
RasGAP_p120GAPcd053914.3e-2667211035
RasGAP_Neurofibromincd053924.3e-497211036
RasGAP_RASA2cd053941.5e-087211031
RasGAP_RAP6cd051298.2e-057241028
RasGAP_RASA4cd053951.6e-067241045
RasGAP_IQGAP_likecd051277e-077601042
RasGAP_GAPAcd051322.8e-107611043
SH2pfam000171.4e-30181256
SH3_1pfam000181e-08285333
SH2pfam000173.2e-32351426
PHpfam001696.6e-19475577
C2pfam001684.3e-11596675
RasGAPpfam006168.1e-61769942
SH2smart002521.3e-27179262
SH3smart003261.7e-11280339
SH2smart002529.1e-26349432
PHsmart002333.6e-23475577
C2smart002396.8e-15595689
RasGAPsmart003231.5e-1576981044

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002650Polymorphismp.ARG398LEUN/A
Swiss-ProtVAR_017744Diseasep.CYS540TYRCapillary malformation-arteriovenous malformation (CMAVM)
Swiss-ProtVAR_002652Polymorphismp.ILE401VALN/A
Swiss-ProtVAR_002651Polymorphismp.LYS400GLUN/A
OMIM139150.0001 Diseasep.ARG398LEUBASAL CELL CARCINOMA, SOMATIC
OMIM139150.0006 Diseasep.ARG285TERCAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION
OMIM139150.0005 Diseasep.CYS540TYRCAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
OMIM139150.0003 Diseasep.ILE401VALBASAL CELL CARCINOMA, SOMATIC
OMIM139150.0002 Diseasep.LYS400GLYBASAL CELL CARCINOMA, SOMATIC



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