Results for the protein: Q8N335

Results for the Protein: Q8N335

74750945

23171

GPD1L

NCBI, UniProt

GPD1L_HUMAN RecName: Full=Glycerol-3-phosphate dehydrogenase 1-like protein; Short=GPD1-L

Known Diseases associated with this Protein:
  BRUGADA SYNDROME 2
  BRUGADA SYNDROME 2 (BRGDA2)
  SUDDEN INFANT DEATH SYNDROME (SIDS)

8

1

4

0

5

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Default View: NAD_Gly3P_dh_C - pfam07479	Swiss-Prot Protein: Q8N335 Identical to: NP_055956 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_044047	Disease	p.ALA280VAL	Brugada syndrome 2 (BRGDA2)
Swiss-Prot	VAR_044046	Disease	p.ARG273CYS	Sudden infant death syndrome (SIDS)
Swiss-Prot	VAR_044044	Disease	p.GLU83LYS	Sudden infant death syndrome (SIDS)
Swiss-Prot	VAR_044045	Disease	p.ILE124VAL	Sudden infant death syndrome (SIDS)
Swiss-Prot	VAR_032114	Polymorphism	p.LEU178PHE	N/A
OMIM	611778.0001	Disease	p.ALA280VAL	BRUGADA SYNDROME 2
OMIM	611778.0004	Disease	p.ARG273CYS	BRUGADA SYNDROME 2
OMIM	611778.0002	Disease	p.GLU83LYS	BRUGADA SYNDROME 2
OMIM	611778.0003	Disease	p.ILE124VAL	BRUGADA SYNDROME 2

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