Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1

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
1–12 of 202 variants
9 papers
NM_005316.4
p.L461V
c.1381T>G
4 papers
NM_005316.4
p.S288C
c.863C>G
3 papers
NM_005316.4
p.M117I
c.351G>A
3 papers
NM_005316.4
p.L184_R185insFs
c.552_553ins4
3 papers
NM_005316.4
p.L235L
c.703C>T
3 papers
NM_005316.4
p.S285F
c.854C>T
3 papers
NM_005316.4
p.P287L
c.860C>T
3 papers
NM_005316.4
p.Q322Splc
c.966-1G>C
2 papers
NM_005316.4
p.M1L
c.1A>T
2 papers
NM_005316.4
p.A2G
c.5C>G
2 papers
NM_005316.4
p.R16C
c.46C>T
2 papers
NM_005316.4
p.W33*
c.98G>A
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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."