Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH2
Variant:p.P336L

GPATCH2

62 papers

RefSeq Summary

The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative...

Pfam Domains

G-patchaa 467–511UCSCG-patch domain

Gene Aliases

HGNC Name

G-patch domain containing 2

HGNC Previous Symbol

GPATC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018040.5
p.P336L
c.1007C>T
Surrounding Variants
1 paper
NM_018040.5
p.P331S
c.991C>T
2 papers
NM_018040.5
p.G297V
c.890G>T
1 paper
NM_018040.5
p.G293D
c.878G>A
1 paper
NM_018040.5
p.K290fs
c.868_869fs
1 paper
NM_018040.5
p.K290delFs
c.869delT
1 paper
NM_018040.5
p.S284fs
c.850_851fs
1 paper
NM_018040.5
p.S284delFs
c.850delT
1 paper
NM_018040.5
p.K354E
c.1060A>G
1 paper
NM_018040.5
p.K357*
c.1069A>T
1 paper
NM_018040.5
p.L254F
c.760C>T
1 paper
NM_018040.5
p.R212delFs
c.634delT
1 paper
NM_018040.5
p.V209V
c.627C>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."