Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.A144D

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.A144D
c.431C>A
Surrounding Variants
2 papers
NM_005316.4
p.N145S
c.434A>G
1 paper
NM_005316.4
p.F142Y
c.425T>A
1 paper
NM_005316.4
p.F142C
c.425T>G
1 paper
NM_005316.4
p.E140A
c.419A>C
1 paper
NM_005316.4
p.E140K
c.418G>A
1 paper
NM_005316.4
p.N148K
c.444T>G
1 paper
NM_005316.4
p.A151E
c.452C>A
1 paper
NM_005316.4
p.V133_S134delFs
c.399_402del4
1 paper
NM_005316.4
p.V132A
c.395T>C
1 paper
NM_005316.4
p.L131R
c.392T>G
1 paper
NM_005316.4
p.N159D
c.475A>G
1 paper
NM_005316.4
p.H160R
c.479A>G
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