Results for the protein: O43502

Results for the Protein: O43502

3914534

5889

RAD51C

NCBI, UniProt

RA51C_HUMAN RecName: Full=DNA repair protein RAD51 homolog 3; Short=R51H3; AltName: Full=RAD51 homolog C; AltName: Full=RAD51-like protein 2

Known Diseases associated with this Protein:
  BREAST-OVARIAN CANCER, FAMILIAL, 3 (BROVCA3)
  BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
  FANCONI ANEMIA COMPLEMENTATION GROUP O (FANCO)
  FANCONI ANEMIA, COMPLEMENTATION GROUP O

10

13

4

0

19

Tips:

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Default View: RecA - COG0468 Rad51 - pfam08423 radB - cd01394 Rad51_DMC1_radA - cd01123 recA_like - cd01393 AAA - smart00382 RecA-like_NTPases - cd01120	Swiss-Prot Protein: O43502 Identical to: NP_478123 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Rad51_DMC1_radA	cd01123	1.9e-115	100	347
recA_like	cd01393	8.7e-96	100	339
radB	cd01394	6.5e-14	100	347
RecA-like_NTPases	cd01120	0.00054	120	317
Rad51	pfam08423	1.5e-13	76	350
AAA	smart00382	2.9e-07	117	323

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063839	Polymorphism	p.ALA126THR	N/A
Swiss-Prot	VAR_068018	Polymorphism	p.ALA175THR	N/A
Swiss-Prot	VAR_020519	Polymorphism	p.ARG249CYS	N/A
Swiss-Prot	VAR_063845	Polymorphism	p.ARG366GLN	N/A
Swiss-Prot	VAR_064032	Disease	p.ARG258HIS	Fanconi anemia complementation group O (FANCO)
Swiss-Prot	VAR_063841	Polymorphism	p.ASP159ASN	N/A
Swiss-Prot	VAR_068019	Disease	p.GLN178PRO	Breast-ovarian cancer, familial, 3 (BROVCA3)
Swiss-Prot	VAR_063837	Polymorphism	p.GLY3ARG	N/A
Swiss-Prot	VAR_068017	Disease	p.GLY162GLU	Breast-ovarian cancer, familial, 3 (BROVCA3)
Swiss-Prot	VAR_063843	Polymorphism	p.GLY264SER	N/A
Swiss-Prot	VAR_068016	Polymorphism	p.GLY114VAL	N/A
Swiss-Prot	VAR_063838	Disease	p.GLY125VAL	Breast-ovarian cancer, familial, 3 (BROVCA3)
Swiss-Prot	VAR_063844	Polymorphism	p.GLY264VAL	N/A
Swiss-Prot	VAR_068014	Polymorphism	p.ILE52LEU	N/A
Swiss-Prot	VAR_020518	Polymorphism	p.ILE144THR	N/A
Swiss-Prot	VAR_063840	Disease	p.LEU138PHE	Breast-ovarian cancer, familial, 3 (BROVCA3)
Swiss-Prot	VAR_068020	Polymorphism	p.LEU262VAL	N/A
Swiss-Prot	VAR_020520	Disease	p.THR287ALA	Breast-ovarian cancer, familial, 3 (BROVCA3)
Swiss-Prot	VAR_063842	Polymorphism	p.VAL169ALA	N/A
OMIM	602774.0001	Disease	p.ARG258HIS	FANCONI ANEMIA, COMPLEMENTATION GROUP O
OMIM	602774.0005	Disease	p.GLN133TER	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
OMIM	602774.0003	Disease	p.GLY125VAL	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
OMIM	602774.0004	Disease	p.LEU138PHE	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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