Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.G22insFs

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
1 paper
NM_005316.4
p.G22insFs
c.66dupA
Surrounding Variants
1 paper
NM_005316.4
p.A23G
c.68C>G
1 paper
NM_005316.4
p.A23A
c.69T>C
1 paper
NM_005316.4
p.Y25_L26delFs
c.75_76delCC
1 paper
NM_005316.4
p.K18M
c.53A>T
1 paper
NM_005316.4
p.L26P
c.77T>C
1 paper
NM_005316.4
p.K18E
c.52A>G
1 paper
NM_005316.4
p.K18*
c.52A>T
1 paper
NM_005316.4
p.M27L
c.79A>C
1 paper
NM_005316.4
p.Q17K
c.49C>A
1 paper
NM_005316.4
p.A28S
c.82G>T
1 paper
NM_005316.4
p.A28V
c.83C>T
2 papers
NM_005316.4
p.R16C
c.46C>T
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."