Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H5
Variant:p.E55*

GTF2H5

171 papers

RefSeq Summary

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during ...

Pfam Domains

Tfb5aa 1–69UCSCTranscription factor TFIIH complex subunit Tfb5

Gene Aliases

HGNC Name

general transcription factor IIH subunit 5

HGNC Previous Symbols

C6orf175; TTD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_207118.3
p.E55*
c.163G>T
Surrounding Variants
1 paper
NM_207118.3
p.Q54R
c.161A>G
1 paper
NM_207118.3
p.Q54L
c.161A>T
11 papers
NM_207118.3
p.R56*
c.166C>T
1 paper
NM_207118.3
p.L53I
c.157C>A
1 paper
NM_207118.3
p.V52V
c.156C>A
1 paper
NM_207118.3
p.G58C
c.172G>T
1 paper
NM_207118.3
p.V50_Q54delins
c.148_160delinsTAATAGCTCCTGG
1 paper
NM_207118.3
p.L60S
c.179T>C
1 paper
NM_207118.3
p.V43V
c.129C>A
2 papers
NM_207118.3
p.V43I
c.127G>A
1 paper
NM_207118.3
p.L68_T69del2
c.202_206del6
1 paper
NM_207118.3
p.H42insFs
c.124_125insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."