Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.I206L

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
2 papers
NM_002046.7
p.I206L
c.616A>C
Surrounding Variants
1 paper
NM_002046.7
p.I206V
c.616A>G
1 paper
NM_002046.7
p.I207F
c.619A>T
2 papers
NM_002046.7
p.Q204Q
c.612G>A
1 paper
NM_002046.7
p.Q204H
c.612G>C
1 paper
NM_002046.7
p.Q204H
c.612G>T
2 papers
NM_002046.7
p.I207delFs
c.621delC
1 paper
NM_002046.7
p.Q204R
c.611A>G
1 paper
NM_002046.7
p.I207M
c.621C>G
1 paper
NM_002046.7
p.I207I
c.621C>T
1 paper
NM_002046.7
p.Q204E
c.610C>G
2 papers
NM_002046.7
p.Q204*
c.610C>T
1 paper
NM_002046.7
p.P208S
c.622C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."