Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H3
Variant:p.M1I

GTF2H3

279 papers

RefSeq Summary

This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transc...

Pfam Domains

Tfb4aa 1–140UCSCTranscription factor Tfb4
Tfb4aa 8–286UCSCTranscription factor Tfb4

Gene Aliases

HGNC Name

general transcription factor IIH subunit 3

HGNC Alias Symbols

BTF2; TFIIH; P34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001516.5
p.M1I
c.3G>C
Surrounding Variants
4 papers
NM_001516.5
p.M1I
c.3G>A
1 paper
NM_001516.5
p.M1I
c.3G>T
1 paper
NM_001516.5
p.V2I
c.4G>A
2 papers
NM_001516.5
p.M1T
c.2T>C
1 paper
NM_001516.5
p.M1insFs
c.3dupG
1 paper
NM_001516.5
p.M1L
c.1A>C
1 paper
NM_001516.5
p.M1V
c.1A>G
2 papers
NM_001516.5
p.M1L
c.1A>T
1 paper
NM_001516.5
p.S3_D4insFs
c.9_10insG
1 paper
NM_001516.5
p.E5Splc
c.14-128T>G
2 papers
NM_001516.5
p.E5Splc
c.14-6T>C
1 paper
NM_001516.5
p.E5Splc
c.14-1G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."