Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.E250K

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.E250K
c.748G>A
Surrounding Variants
1 paper
NM_002046.7
p.E250Q
c.748G>C
1 paper
NM_002046.7
p.E250*
c.748G>T
1 paper
NM_002046.7
p.E250A
c.749A>C
2 papers
NM_002046.7
p.L249P
c.746T>C
1 paper
NM_002046.7
p.L249L
c.745C>T
1 paper
NM_002046.7
p.L249delins
c.746_747delinsTA
1 paper
NM_002046.7
p.K251N
c.753A>C
1 paper
NM_002046.7
p.K251N
c.753A>T
2 papers
NM_002046.7
p.R248H
c.743G>A
2 papers
NM_002046.7
p.R248L
c.743G>T
1 paper
NM_002046.7
p.R248G
c.742C>G
1 paper
NM_002046.7
p.P252A
c.754C>G
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