Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.R175W

GTF2H1

501 papers

Pfam Domains

PH_TFIIHaa 16–97UCSCTFIIH p62 subunit, N-terminal domain
BSDaa 180–237UCSCBSD domain

Gene Aliases

HGNC Name

general transcription factor IIH subunit 1

HGNC Alias Symbols

BTF2; P62; TFIIH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005316.4
p.R175W
c.523C>T
Surrounding Variants
1 paper
NM_005316.4
p.D173Y
c.517G>T
1 paper
NM_005316.4
p.A172_D173delFs
c.516_517delTG
1 paper
NM_005316.4
p.A172insFs
c.515dupC
1 paper
NM_005316.4
p.G180G
c.540C>T
1 paper
NM_005316.4
p.G183V
c.548G>T
3 papers
NM_005316.4
p.L184_R185insFs
c.552_553ins4
1 paper
NM_005316.4
p.I192N
c.575T>A
1 paper
NM_005316.4
p.V203Splc
c.607+1G>A
1 paper
NM_005316.4
p.L171M
c.511C>A
1 paper
NM_005316.4
p.A169T
c.505G>A
1 paper
NM_005316.4
p.S167C
c.500C>G
1 paper
NM_005316.4
p.H160R
c.479A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."