Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H2
Variant:p.G287_G288insFs

GTF2H2

332 papers

RefSeq Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. ...

Pfam Domains

Ssl1aa 64–255UCSCSsl1-like
C1_4aa 344–387UCSCTFIIH C1-like domain

Gene Aliases

HGNC Name

general transcription factor IIH subunit 2

HGNC Alias Symbols

BTF2; TFIIH; BTF2P44; T-BTF2P44; p44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001515.4
p.G287_G288insFs
c.861_862insT
Surrounding Variants
1 paper
NM_001515.4
p.G288V
c.863G>T
1 paper
NM_001515.4
p.F290S
c.869T>C
1 paper
NM_001515.4
p.E281A
c.842A>C
1 paper
NM_001515.4
p.T280delFs
c.840delA
1 paper
NM_001515.4
p.D277E
c.831T>A
1 paper
NM_001515.4
p.E300_E304delFs
c.899_911del13
1 paper
NM_001515.4
p.H317insFs
c.949_950insA
2 papers
NM_001515.4
p.Y322*
c.966C>G
2 papers
NM_001515.4
p.Y322*
c.966C>A
1 paper
NM_001515.4
p.R343Splc
c.1028+1G>A
1 paper
NM_001515.4
p.M273L
c.817A>T
1 paper
NM_001515.4
p.M273L
c.817A>C
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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."