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

2 papers

NM_015141.4

p.V337F

c.1009G>T

Surrounding Variants

1 paper

NM_015141.4

p.P336L

c.1007C>T

1 paper

NM_015141.4

p.L341S

c.1022T>C

4 papers

NM_015141.4

p.Q345H

c.1035G>C

4 papers

NM_015141.4

p.Q345H

c.1035G>T

1 paper

NM_015141.4

p.A326E

c.977C>A

1 paper

NM_015141.4

p.T325I

c.974C>T

1 paper

NM_015141.4

p.K320delFs

c.960delG

1 paper

NM_015141.4

p.K320fs

c.958_959fs

1 paper

NM_015141.4

p.L318Q

c.953T>A

1 paper

NM_015141.4

p.Q314*

c.940C>T

1 paper

NM_015141.4

p.R310H

c.929G>A

1 paper

NM_015141.4

p.A306G

c.917C>G