Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H5
Variant:p.L21P

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
17 papers
NM_207118.3
p.L21P
c.62T>C
Surrounding Variants
1 paper
NM_207118.3
p.F19S
c.56T>C
2 papers
NM_207118.3
p.K17R
c.50A>G
2 papers
NM_207118.3
p.K17E
c.49A>G
5 papers
NM_207118.3
p.K17*
c.49A>T
1 paper
NM_207118.3
p.E25E
c.75G>A
3 papers
NM_207118.3
p.S26T
c.76T>A
1 paper
NM_207118.3
p.M16R
c.47T>G
1 paper
NM_207118.3
p.M16V
c.46A>G
1 paper
NM_207118.3
p.N27H
c.79A>C
1 paper
NM_207118.3
p.C12Splc
c.36-1G>A
1 paper
NM_207118.3
p.C12Splc
c.36-2A>G
1 paper
NM_207118.3
p.K32E
c.94A>G
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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."