Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.L461V

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
9 papers
NM_005316.4
p.L461V
c.1381T>G
Surrounding Variants
1 paper
NM_005316.4
p.E460G
c.1379A>G
1 paper
NM_005316.4
p.I457T
c.1370T>C
2 papers
NM_005316.4
p.G469E
c.1406G>A
1 paper
NM_005316.4
p.R473Q
c.1418G>A
1 paper
NM_005316.4
p.S477Y
c.1430C>A
1 paper
NM_005316.4
p.L486L
c.1456C>T
1 paper
NM_005316.4
p.Q447K
c.1339C>A
1 paper
NM_005316.4
p.Q447E
c.1339C>G
1 paper
NM_005316.4
p.G443E
c.1328G>A
1 paper
NM_005316.4
p.A439S
c.1315G>T
1 paper
NM_005316.4
p.A427D
c.1280C>A
1 paper
NM_005316.4
p.Q420_V421Splc
c.1261-139A>T
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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."