Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.L217_Q218delFs

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.L217_Q218delFs
c.649_652del4
Surrounding Variants
1 paper
NM_001517.5
p.Q211L
c.632A>T
1 paper
NM_001517.5
p.A210V
c.629C>T
1 paper
NM_001517.5
p.A223D
c.668C>A
1 paper
NM_001517.5
p.P209P
c.627G>A
1 paper
NM_001517.5
p.Q224L
c.671A>T
1 paper
NM_001517.5
p.G200G
c.600C>G
1 paper
NM_001517.5
p.S198C
c.593C>G
2 papers
NM_001517.5
p.T197A
c.589A>G
1 paper
NM_001517.5
p.C195*
c.585C>A
1 paper
NM_001517.5
p.P190S
c.568C>T
1 paper
NM_001517.5
p.S187Splc
c.561-1G>A
1 paper
NM_001517.5
p.R226W
c.676C>T
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