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.G109R

c.325G>A

Surrounding Variants

3 papers

NM_015141.4

p.P112L

c.335C>T

1 paper

NM_015141.4

p.R102S

c.306A>T

1 paper

NM_015141.4

p.I100L

c.298A>C

1 paper

NM_015141.4

p.K122_G123Splc

c.366+8G>A

1 paper

NM_015141.4

p.V92E

c.275T>A

1 paper

NM_015141.4

p.D89E

c.267C>A

1 paper

NM_015141.4

p.D89E

c.267C>G

1 paper

NM_015141.4

p.D87N

c.259G>A

1 paper

NM_015141.4

p.D87H

c.259G>C

1 paper

NM_015141.4

p.E83D

c.249G>C

1 paper

NM_015141.4

p.E83D

c.249G>T

22 papers

NM_015141.4

p.E83K

c.247G>A