Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.S255R

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.S255R
c.763A>C
Surrounding Variants
1 paper
NM_001517.5
p.S255R
c.765T>A
1 paper
NM_001517.5
p.S255R
c.765T>G
1 paper
NM_001517.5
p.L259L
c.777G>A
1 paper
NM_001517.5
p.L259F
c.777G>C
1 paper
NM_001517.5
p.L259F
c.777G>T
1 paper
NM_001517.5
p.L262R
c.785T>G
1 paper
NM_001517.5
p.H264Y
c.790C>T
1 paper
NM_001517.5
p.E267*
c.799G>T
1 paper
NM_001517.5
p.V271_F272insT
c.811_815ins3
1 paper
NM_001517.5
p.Q273P
c.818A>C
1 paper
NM_001517.5
p.S241S
c.723C>T
1 paper
NM_001517.5
p.Q239H
c.717G>T
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