Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.R306K

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.R306K
c.917G>A
Surrounding Variants
1 paper
NM_005316.4
p.F307F
c.921T>C
1 paper
NM_005316.4
p.S311_A312del2
c.931_935del6
1 paper
NM_005316.4
p.A302T
c.904G>A
1 paper
NM_005316.4
p.A312delins
c.934_936delinsTGA
1 paper
NM_005316.4
p.L315L
c.943C>T
1 paper
NM_005316.4
p.S292insFs
c.875_876insT
1 paper
NM_005316.4
p.R320S
c.960A>C
1 paper
NM_005316.4
p.R320S
c.960A>T
4 papers
NM_005316.4
p.S288C
c.863C>G
1 paper
NM_005316.4
p.P287_S288insFs
c.861_862insT
3 papers
NM_005316.4
p.P287L
c.860C>T
1 paper
NM_005316.4
p.V286E
c.857T>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."