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.A276A

c.828C>T

Surrounding Variants

2 papers

NM_015141.4

p.F279insFs

c.835_836insGC

43 papers

NM_015141.4

p.A280V

c.839C>T

17 papers

NM_015141.4

p.R273C

c.817C>T

1 paper

NM_015141.4

p.G283_K284insFs

c.849_850insTG

1 paper

NM_015141.4

p.G269R

c.805G>A

1 paper

NM_015141.4

p.G269R

c.805G>C

1 paper

NM_015141.4

p.G259R

c.775G>A

1 paper

NM_015141.4

p.G259R

c.775G>C

1 paper

NM_015141.4

p.F254L

c.762C>A

1 paper

NM_015141.4

p.F254L

c.762C>G

1 paper

NM_015141.4

p.F254L

c.760T>C

2 papers

NM_015141.4

p.V249M

c.745G>A