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

1–12 of 130 variants

12 papers

NM_005276.4

p.K120_G121Splc

c.361-1G>C

10 papers

NM_005276.4

p.R269Q

c.806G>A

10 papers

NM_005276.4

p.G299R

c.895G>A

10 papers

NM_005276.4

p.G299R

c.895G>C

9 papers

NM_005276.4

p.C214R

c.640T>C

9 papers

NM_005276.4

p.R229Q

c.686G>A

8 papers

NM_005276.4

p.V73_V74Splc

c.220-2A>G

8 papers

NM_005276.4

p.A274T

c.820G>A

7 papers

NM_005276.4

p.Q175*

c.523C>T

6 papers

NM_005276.4

p.G167D

c.500G>A

6 papers

NM_005276.4

p.G167D

c.500G>A

6 papers

NM_005276.4

p.E301*

c.901G>T