Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH8
Variant:p.R415T

GPATCH8

86 papers

RefSeq Summary

The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought ...

Pfam Domains

G-patchaa 40–83UCSCG-patch domain
G-patchaa 40–83UCSCG-patch domain
ZNF804A_betaaa 536–569UCSCZNF804A small beta sheet domain
ZNF804A_betaaa 536–569UCSCZNF804A small beta sheet domain
ZNF804A_betaaa 536–569UCSCZNF804A small beta sheet domain

Gene Aliases

HGNC Name

G-patch domain containing 8

HGNC Previous Symbols

KIAA0553; GPATC8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002909.4
p.R415T
c.1244G>C
Surrounding Variants
1 paper
NM_001002909.4
p.S417T
c.1250G>C
1 paper
NM_001002909.4
p.T426A
c.1276A>G
1 paper
NM_001002909.4
p.H401P
c.1202A>C
1 paper
NM_001002909.4
p.K359R
c.1076A>G
1 paper
NM_001002909.4
p.E475delFs
c.1423_1424delTC
1 paper
NM_001002909.4
p.S491N
c.1472G>A
1 paper
NM_001002909.4
p.A323V
c.968C>T
1 paper
NM_001002909.4
p.S513C
c.1538C>G
1 paper
NM_001002909.4
p.S314*
c.941C>G
1 paper
NM_001002909.4
p.S314*
c.941C>A
1 paper
NM_001002909.4
p.T270N
c.809C>A
1 paper
NM_001002909.4
p.T270A
c.808A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."