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.M293T

c.878T>C

Surrounding Variants

1 paper

NM_015141.4

p.E287G

c.860A>G

1 paper

NM_015141.4

p.A306_E307del1

c.917_919delCTG

1 paper

NM_015141.4

p.A306T

c.916G>A

1 paper

NM_015141.4

p.A306G

c.917C>G

1 paper

NM_015141.4

p.A306delins

c.917_918delinsGG

1 paper

NM_015141.4

p.R310H

c.929G>A

1 paper

NM_015141.4

p.Q314*

c.940C>T

1 paper

NM_015141.4

p.L318Q

c.953T>A

1 paper

NM_015141.4

p.K320fs

c.958_959fs

1 paper

NM_015141.4

p.G283_K284insFs

c.849_850insTG

43 papers

NM_015141.4

p.A280V

c.839C>T

2 papers

NM_015141.4

p.F279insFs

c.835_836insGC