Varaico: Literature-Extracted Genetic Variants

GPD1L

149 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where i...

Pfam Domains

NAD_Gly3P_dh_Naa 7–176UCSCNAD-dependent glycerol-3-phosphate dehydrogenase N-terminus

NAD_Gly3P_dh_Caa 195–342UCSCNAD-dependent glycerol-3-phosphate dehydrogenase C-terminus

Gene Aliases

HGNC Name

glycerol-3-phosphate dehydrogenase 1 like

HGNC Alias Symbol

KIAA0089

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015141.4

p.C202Y

c.605G>A

Surrounding Variants

1 paper

NM_015141.4

p.V192M

c.574G>A

4 papers

NM_015141.4

p.R189*

c.565C>T

1 paper

NM_015141.4

p.N187S

c.560A>G

1 paper

NM_015141.4

p.Q184L

c.551A>T

4 papers

NM_015141.4

p.E174K

c.520G>A

2 papers

NM_015141.4

p.V172L

c.514G>C

1 paper

NM_015141.4

p.K171*

c.511A>T

1 paper

NM_015141.4

p.G169Splc

c.505+2T>G

1 paper

NM_015141.4

p.T167A

c.499A>G

3 papers

NM_015141.4

p.E161K

c.481G>A

1 paper

NM_015141.4

p.V158M

c.472G>A

1 paper

NM_015141.4

p.E157*

c.469G>T