Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH8
Variant:p.R969*

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.R969*
c.2905C>T
Surrounding Variants
1 paper
NM_001002909.4
p.R975H
c.2924G>A
2 papers
NM_001002909.4
p.A979P
c.2935G>C
2 papers
NM_001002909.4
p.R957W
c.2869C>T
1 paper
NM_001002909.4
p.R955I
c.2864G>T
1 paper
NM_001002909.4
p.S985C
c.2953A>T
1 paper
NM_001002909.4
p.R947Q
c.2840G>A
1 paper
NM_001002909.4
p.R907C
c.2719C>T
1 paper
NM_001002909.4
p.R1032H
c.3095G>A
1 paper
NM_001002909.4
p.D899_R900ins3
c.2697_2698ins9
1 paper
NM_001002909.4
p.G1042R
c.3124G>C
1 paper
NM_001002909.4
p.G1042S
c.3124G>A
1 paper
NM_001002909.4
p.R1043W
c.3127C>T
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