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

1–12 of 95 variants

43 papers

NM_015141.4

p.A280V

c.839C>T

30 papers

NM_015141.4

p.I124V

c.370A>G

22 papers

NM_015141.4

p.E83K

c.247G>A

17 papers

NM_015141.4

p.R273C

c.817C>T

4 papers

NM_015141.4

p.I124M

c.372A>G

4 papers

NM_015141.4

p.E174K

c.520G>A

4 papers

NM_015141.4

p.R189*

c.565C>T

4 papers

NM_015141.4

p.Q345H

c.1035G>C

4 papers

NM_015141.4

p.Q345H

c.1035G>T

3 papers

NM_015141.4

p.P112L

c.335C>T

3 papers

NM_015141.4

p.E161K

c.481G>A

2 papers

NM_015141.4

p.W16Splc

c.48-30T>C