Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.K18M

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.K18M
c.53A>T
Surrounding Variants
1 paper
NM_005316.4
p.K18E
c.52A>G
1 paper
NM_005316.4
p.K18*
c.52A>T
1 paper
NM_005316.4
p.Q17K
c.49C>A
2 papers
NM_005316.4
p.R16C
c.46C>T
1 paper
NM_005316.4
p.K14K
c.42A>G
1 paper
NM_005316.4
p.G22insFs
c.66dupA
1 paper
NM_005316.4
p.A23G
c.68C>G
1 paper
NM_005316.4
p.A23A
c.69T>C
1 paper
NM_005316.4
p.V12E
c.35T>A
1 paper
NM_005316.4
p.Y25_L26delFs
c.75_76delCC
1 paper
NM_005316.4
p.I11T
c.32T>C
1 paper
NM_005316.4
p.L10L
c.30G>C
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