Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH8
Variant:p.H849R

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.H849R
c.2546A>G
Surrounding Variants
1 paper
NM_001002909.4
p.E843del1
c.2527_2528delTTC
1 paper
NM_001002909.4
p.E841_E842del1
c.2523_2525delTCT
2 papers
NM_001002909.4
p.S865F
c.2594C>T
1 paper
NM_001002909.4
p.Q830*
c.2488C>T
1 paper
NM_001002909.4
p.H829Y
c.2485C>T
1 paper
NM_001002909.4
p.S872G
c.2614A>G
1 paper
NM_001002909.4
p.S877F
c.2630C>T
1 paper
NM_001002909.4
p.S878S
c.2634A>G
1 paper
NM_001002909.4
p.Y889_D891del0
c.2667_2672del6
1 paper
NM_001002909.4
p.D899_R900ins3
c.2697_2698ins9
1 paper
NM_001002909.4
p.R797Q
c.2390G>A
1 paper
NM_001002909.4
p.R907C
c.2719C>T
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