Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH8
Variant:p.G1120R

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.G1120R
c.3358G>C
Surrounding Variants
1 paper
NM_001002909.4
p.G1120R
c.3358G>A
1 paper
NM_001002909.4
p.F1131Y
c.3392T>A
1 paper
NM_001002909.4
p.V1102L
c.3304G>T
1 paper
NM_001002909.4
p.V1102L
c.3304G>C
1 paper
NM_001002909.4
p.S1138C
c.3413C>G
1 paper
NM_001002909.4
p.K1085N
c.3255G>T
1 paper
NM_001002909.4
p.T1154T
c.3462C>G
1 paper
NM_001002909.4
p.R1168M
c.3503G>T
1 paper
NM_001002909.4
p.P1194S
c.3580C>T
1 paper
NM_001002909.4
p.R1043W
c.3127C>T
1 paper
NM_001002909.4
p.G1042R
c.3124G>C
1 paper
NM_001002909.4
p.G1042S
c.3124G>A
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."