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.I134L

c.400A>C

Surrounding Variants

1 paper

NM_015141.4

p.I134V

c.400A>G

1 paper

NM_015141.4

p.D136D

c.408C>T

2 papers

NM_015141.4

p.L131M

c.391C>A

1 paper

NM_015141.4

p.E126K

c.376G>A

4 papers

NM_015141.4

p.I124M

c.372A>G

30 papers

NM_015141.4

p.I124V

c.370A>G

1 paper

NM_015141.4

p.I144V

c.430A>G

1 paper

NM_015141.4

p.N153N

c.459C>T

1 paper

NM_015141.4

p.N156insFs

c.466_467insA

2 papers

NM_015141.4

p.A155A

c.465C>T

1 paper

NM_015141.4

p.E157*

c.469G>T

1 paper

NM_015141.4

p.V158M

c.472G>A