Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H4
Variant:p.L51L

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.L51L
c.153G>A
Surrounding Variants
1 paper
NM_001517.5
p.N54I
c.161A>T
1 paper
NM_001517.5
p.N54K
c.162C>G
2 papers
NM_001517.5
p.L48F
c.142C>T
1 paper
NM_001517.5
p.V56E
c.167T>A
1 paper
NM_001517.5
p.V56G
c.167T>G
4 papers
NM_001517.5
p.R46Splc
c.138-1G>A
1 paper
NM_001517.5
p.R58W
c.172C>T
1 paper
NM_001517.5
p.M59I
c.177G>T
1 paper
NM_001517.5
p.L62Q
c.185T>A
1 paper
NM_001517.5
p.E63E
c.189G>A
1 paper
NM_001517.5
p.Q64L
c.191A>T
1 paper
NM_001517.5
p.P65S
c.193C>T
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