Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.M163I

GTF2H4

330 papers

Pfam Domains

Tfb2aa 21–374UCSCTranscription factor Tfb2
Tfb2_Caa 389–456UCSCTranscription factor Tfb2 (p52) C-terminal domain

Gene Aliases

HGNC Name

general transcription factor IIH subunit 4

HGNC Alias Symbols

TFB2; TFIIH; P52

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001517.5
p.M163I
c.489G>C
Surrounding Variants
1 paper
NM_001517.5
p.H161Y
c.481C>T
1 paper
NM_001517.5
p.P167R
c.500C>G
1 paper
NM_001517.5
p.S168fs
c.502_503fs
2 papers
NM_001517.5
p.A170V
c.509C>T
1 paper
NM_001517.5
p.V171F
c.511G>T
1 paper
NM_001517.5
p.D174V
c.521A>T
1 paper
NM_001517.5
p.Q177*
c.529C>T
1 paper
NM_001517.5
p.S180S
c.540C>T
1 paper
NM_001517.5
p.Q181delFs
c.542delA
1 paper
NM_001517.5
p.L184H
c.551T>A
1 paper
NM_001517.5
p.W156R
c.466T>A
1 paper
NM_001517.5
p.W156R
c.466T>C
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