Varaico: Literature-Extracted Genetic Variants

Gene:GPI
Variant:p.L339P

GPI

627 papers

RefSeq Summary

This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct...

Pfam Domains

PGIaa 54–546UCSCPhosphoglucose isomerase

Gene Aliases

HGNC Name

glucose-6-phosphate isomerase

HGNC Alias Symbol

AMF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_000175.5
p.L339P
c.1016T>C
Surrounding Variants
5 papers
NM_000175.5
p.P340S
c.1018C>T
1 paper
NM_000175.5
p.M338_Y341del0
c.1012_1023del12
1 paper
NM_000175.5
p.Y341C
c.1022A>G
1 paper
NM_000175.5
p.A337V
c.1010C>T
8 papers
NM_000175.5
p.A337T
c.1009G>A
7 papers
NM_000175.5
p.Q343R
c.1028A>G
1 paper
NM_000175.5
p.E334_T335insA
c.1000_1004ins3
1 paper
NM_000175.5
p.C333Y
c.998G>A
9 papers
NM_000175.5
p.R347C
c.1039C>T
21 papers
NM_000175.5
p.R347H
c.1040G>A
1 paper
NM_000175.5
p.F331_H336delFs
c.992_1008del17
1 paper
NM_000175.5
p.N329Y
c.985A>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."