Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.E154K

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.E154K
c.460G>A
Surrounding Variants
1 paper
NM_001517.5
p.E154D
c.462G>C
1 paper
NM_001517.5
p.E154D
c.462G>T
1 paper
NM_001517.5
p.W156R
c.466T>A
1 paper
NM_001517.5
p.W156R
c.466T>C
1 paper
NM_001517.5
p.K150delFs
c.449delA
1 paper
NM_001517.5
p.L148L
c.444T>G
1 paper
NM_001517.5
p.R143G
c.427C>G
1 paper
NM_001517.5
p.A142V
c.425C>T
1 paper
NM_001517.5
p.L136P
c.407T>C
1 paper
NM_001517.5
p.T133_S134delFs
c.399_402del4
1 paper
NM_001517.5
p.D132G
c.395A>G
1 paper
NM_001517.5
p.D131G
c.392A>G
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