Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.E320Splc

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.E320Splc
c.958+64C>T
Surrounding Variants
1 paper
NM_001517.5
p.E320Splc
c.958+2T>C
1 paper
NM_001517.5
p.L315_Y318del4
c.943_953del12
1 paper
NM_001517.5
p.E310A
c.929A>C
1 paper
NM_001517.5
p.E310G
c.929A>G
2 papers
NM_001517.5
p.E310K
c.928G>A
1 paper
NM_001517.5
p.I307I
c.921T>C
1 paper
NM_001517.5
p.P304Q
c.911C>A
1 paper
NM_001517.5
p.E320Splc
c.959-2A>G
1 paper
NM_001517.5
p.V301_V309ins3
c.903_926dup24
1 paper
NM_001517.5
p.T300fs
c.898_899fs
1 paper
NM_001517.5
p.L323P
c.968T>C
1 paper
NM_001517.5
p.G298G
c.894G>T
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