Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.N236S

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.N236S
c.707A>G
Surrounding Variants
3 papers
NM_005316.4
p.L235L
c.703C>T
2 papers
NM_005316.4
p.R234W
c.700C>T
2 papers
NM_005316.4
p.S239S
c.717A>G
1 paper
NM_005316.4
p.R232R
c.696G>A
1 paper
NM_005316.4
p.K240R
c.719A>G
1 paper
NM_005316.4
p.D241Y
c.721G>T
1 paper
NM_005316.4
p.F230insFs
c.689_690insT
1 paper
NM_005316.4
p.E245A
c.734A>C
1 paper
NM_005316.4
p.A247insFs
c.740dupC
1 paper
NM_005316.4
p.T222I
c.665C>T
1 paper
NM_005316.4
p.V211I
c.631G>A
1 paper
NM_005316.4
p.Y207Y
c.621T>C
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."