Varaico: Literature-Extracted Genetic Variants

Gene:GPATCH1
Variant:p.R27K

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.R27K
c.80G>A
Surrounding Variants
1 paper
NM_018025.3
p.G25fs
c.73_74fs
1 paper
NM_018025.3
p.K29N
c.87G>C
1 paper
NM_018025.3
p.K29N
c.87G>T
1 paper
NM_018025.3
p.K30I
c.89A>T
1 paper
NM_018025.3
p.I32N
c.95T>A
1 paper
NM_018025.3
p.K47N
c.141A>C
1 paper
NM_018025.3
p.K47N
c.141A>T
1 paper
NM_018025.3
p.G70A
c.209G>C
1 paper
NM_018025.3
p.D85N
c.253G>A
1 paper
NM_018025.3
p.D99N
c.295G>A
1 paper
NM_018025.3
p.D99fs
c.295_296fs
1 paper
NM_018025.3
p.D99_L100delFs
c.297_298delTC
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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."