Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH1
Variant:p.Q780H

GPATCH1

54 papers

Pfam Domains

DUF1604aa 31–116UCSCProtein of unknown function (DUF1604)
G-patchaa 152–184UCSCG-patch domain
HTH_TGHaa 484–563UCSCTGH-like, helix-turn-helix domain

Gene Aliases

HGNC Name

G-patch domain containing 1

HGNC Previous Symbol

GPATC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018025.3
p.Q780H
c.2340G>C
Surrounding Variants
1 paper
NM_018025.3
p.Q780H
c.2340G>T
1 paper
NM_018025.3
p.Q780K
c.2338C>A
1 paper
NM_018025.3
p.M751L
c.2251A>C
1 paper
NM_018025.3
p.M751L
c.2251A>T
1 paper
NM_018025.3
p.K736N
c.2208A>C
1 paper
NM_018025.3
p.K736N
c.2208A>T
1 paper
NM_018025.3
p.R833W
c.2497C>T
4 papers
NM_018025.3
p.L728S
c.2183T>C
4 papers
NM_018025.3
p.H724R
c.2171A>G
1 paper
NM_018025.3
p.E693D
c.2079A>C
1 paper
NM_018025.3
p.E693D
c.2079A>T
1 paper
NM_018025.3
p.W684L
c.2051G>T
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