Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.T42K

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.T42K
c.125C>A
Surrounding Variants
1 paper
NM_005316.4
p.T42insFs
c.124_125insT
1 paper
NM_005316.4
p.F41S
c.122T>C
1 paper
NM_005316.4
p.I43I
c.129C>A
1 paper
NM_005316.4
p.S44R
c.132C>A
2 papers
NM_005316.4
p.M46I
c.138G>A
2 papers
NM_005316.4
p.M46I
c.138G>C
2 papers
NM_005316.4
p.M46I
c.138G>T
1 paper
NM_005316.4
p.Y47N
c.139T>A
1 paper
NM_005316.4
p.Y47H
c.139T>C
1 paper
NM_005316.4
p.I50L
c.148A>C
1 paper
NM_005316.4
p.I50V
c.148A>G
1 paper
NM_005316.4
p.A34V
c.101C>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."