Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H5
Variant:p.I10K

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.I10K
c.29T>A
Surrounding Variants
1 paper
NM_207118.3
p.C12R
c.34T>C
1 paper
NM_207118.3
p.C12Y
c.35G>A
1 paper
NM_207118.3
p.C12F
c.35G>T
1 paper
NM_207118.3
p.K6R
c.17A>G
1 paper
NM_207118.3
p.N3_V4insFs
c.9_10insG
1 paper
NM_207118.3
p.V2I
c.4G>A
7 papers
NM_207118.3
p.M1T
c.2T>C
1 paper
NM_207118.3
p.M1V
c.1A>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."