Varaico: Literature-Extracted Genetic Variants

Gene:GPN1

GPN1

25 papers

RefSeq Summary

This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have b...

Pfam Domains

ATP_bind_1aa 24–264UCSCConserved hypothetical ATP binding protein

Gene Aliases

HGNC Name

GPN-loop GTPase 1

HGNC Previous Symbol

XAB1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_007266.4
p.V24M
c.70G>A
1 paper
NM_007266.4
p.A2A
c.6G>T
1 paper
NM_007266.4
p.H18L
c.53A>T
1 paper
NM_007266.4
p.P19A
c.55C>G
1 paper
NM_007266.4
p.A28insFs
c.82dupG
1 paper
NM_007266.4
p.V36A
c.107T>C
1 paper
NM_007266.4
p.H42L
c.125A>T
1 paper
NM_007266.4
p.P65S
c.193C>T
1 paper
NM_007266.4
p.P65H
c.194C>A
1 paper
NM_007266.4
p.K81R
c.242A>G
1 paper
NM_007266.4
p.L85F
c.253C>T
1 paper
NM_007266.4
p.S94*
c.281C>A
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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."