Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.C16R

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
2 papers
NM_001517.5
p.C16R
c.46T>C
Surrounding Variants
1 paper
NM_001517.5
p.C16_L31delFs
c.46_92del47
2 papers
NM_001517.5
p.C16Y
c.47G>A
1 paper
NM_001517.5
p.Q15K
c.43C>A
2 papers
NM_001517.5
p.Q15*
c.43C>T
1 paper
NM_001517.5
p.L14Q
c.41T>A
1 paper
NM_001517.5
p.F22_R33del12
c.64_98del36
1 paper
NM_001517.5
p.L9L
c.27G>T
1 paper
NM_001517.5
p.L26P
c.77T>C
1 paper
NM_001517.5
p.S27R
c.79A>C
1 paper
NM_001517.5
p.T4I
c.11C>T
1 paper
NM_001517.5
p.T4A
c.10A>G
1 paper
NM_001517.5
p.S3_T4insFs
c.9_10insG
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