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.K33N

c.99A>T

Surrounding Variants

1 paper

NM_015141.4

p.K33N

c.99A>C

1 paper

NM_015141.4

p.Q32*

c.94C>T

1 paper

NM_015141.4

p.K29*

c.85A>T

1 paper

NM_015141.4

p.K39Q

c.115A>C

1 paper

NM_015141.4

p.F43delFs

c.129delT

1 paper

NM_015141.4

p.A21insFs

c.63dupA

1 paper

NM_015141.4

p.D54V

c.161A>T

2 papers

NM_015141.4

p.W16Splc

c.48-30T>C

1 paper

NM_015141.4

p.V63V

c.189A>T

1 paper

NM_015141.4

p.K64K

c.192A>G