Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH8
Variant:p.K1341T

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.K1341T
c.4022A>C
Surrounding Variants
2 papers
NM_001002909.4
p.Q1381*
c.4141C>T
1 paper
NM_001002909.4
p.H1382L
c.4145A>T
1 paper
NM_001002909.4
p.A1386T
c.4156G>A
1 paper
NM_001002909.4
p.A1390T
c.4168G>A
1 paper
NM_001002909.4
p.G1392S
c.4174G>A
1 paper
NM_001002909.4
p.P1280P
c.3840C>A
1 paper
NM_001002909.4
p.H1423_S1424delFs
c.4269_4272del4
1 paper
NM_001002909.4
p.H1423_S1424del2
c.4267_4271del6
1 paper
NM_001002909.4
p.D1249N
c.3745G>A
1 paper
NM_001002909.4
p.G1450fs
c.4348_4349fs
1 paper
NM_001002909.4
p.P1456S
c.4366C>T
1 paper
NM_001002909.4
p.D1218E
c.3654T>G
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