Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.D50H

GAPDH

4,501 papers

RefSeq Summary

This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistic...

Pfam Domains

Gp_dh_Naa 4–105UCSCGlyceraldehyde 3-phosphate dehydrogenase, NAD binding domain
Gp_dh_Caa 157–314UCSCGlyceraldehyde 3-phosphate dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glyceraldehyde-3-phosphate dehydrogenase

HGNC Previous Symbol

GAPD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002046.7
p.D50H
c.148G>C
Surrounding Variants
2 papers
NM_002046.7
p.D50N
c.148G>A
1 paper
NM_002046.7
p.D50V
c.149A>T
1 paper
NM_002046.7
p.S51delFs
c.151delT
1 paper
NM_002046.7
p.D50E
c.150T>A
3 papers
NM_002046.7
p.Y49N
c.145T>A
2 papers
NM_002046.7
p.S51T
c.151T>A
2 papers
NM_002046.7
p.S51A
c.151T>G
4 papers
NM_002046.7
p.S51Y
c.152C>A
2 papers
NM_002046.7
p.S51C
c.152C>G
1 paper
NM_002046.7
p.Q48R
c.143A>G
1 paper
NM_002046.7
p.Q48_F56del0
c.144_167del24
3 papers
NM_002046.7
p.S51S
c.153C>A
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