Varaico: Literature-Extracted Genetic Variants

GPD1

115 papers

RefSeq Summary

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible c...

Pfam Domains

NAD_Gly3P_dh_Naa 5–174UCSCNAD-dependent glycerol-3-phosphate dehydrogenase N-terminus

NAD_Gly3P_dh_Caa 193–340UCSCNAD-dependent glycerol-3-phosphate dehydrogenase C-terminus

Gene Aliases

HGNC Name

glycerol-3-phosphate dehydrogenase 1

HGNC Previous Name

glycerol-3-phosphate dehydrogenase 1 (soluble)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005276.4

p.V135M

c.403G>A

Surrounding Variants

1 paper

NM_005276.4

p.L131fs

c.391_392fs

1 paper

NM_005276.4

p.L131delFs

c.392_393delTC

1 paper

NM_001257199.2

p.I119fs

c.355_356fs

1 paper

NM_005276.4

p.M144V

c.430A>G

1 paper

NM_005276.4

p.M144T

c.431T>C

2 papers

NM_005276.4

p.E124K

c.370G>A

3 papers

NM_005276.4

p.G121R

c.361G>A

3 papers

NM_005276.4

p.G121R

c.361G>C

12 papers

NM_005276.4

p.K120_G121Splc

c.361-1G>C

2 papers

NM_005276.4

p.A150T

c.448G>A

2 papers

NM_005276.4

p.A153T

c.457G>A

6 papers

NM_005276.4

p.G167D

c.500G>A