Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.Q239H

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.Q239H
c.717G>T
Surrounding Variants
1 paper
NM_001517.5
p.S241S
c.723C>T
1 paper
NM_001517.5
p.L234F
c.700C>T
1 paper
NM_001517.5
p.L230P
c.689T>C
1 paper
NM_001517.5
p.L230insFs
c.689_690insT
1 paper
NM_001517.5
p.R226Q
c.677G>A
1 paper
NM_001517.5
p.R226W
c.676C>T
1 paper
NM_001517.5
p.Q224L
c.671A>T
1 paper
NM_001517.5
p.A223D
c.668C>A
1 paper
NM_001517.5
p.S255R
c.763A>C
1 paper
NM_001517.5
p.L217_Q218delFs
c.649_652del4
1 paper
NM_001517.5
p.S255R
c.765T>A
1 paper
NM_001517.5
p.S255R
c.765T>G
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