Varaico: Literature-Extracted Genetic Variants

Gene:TBX5
Variant:p.G80R

TBX5

405 papers

RefSeq Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developm...

Pfam Domains

T-boxaa 56–238UCSCT-box

Gene Aliases

HGNC Name

T-box transcription factor 5

HGNC Previous Symbol

HOS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
48 papers
NM_181486.4
p.G80R
c.238G>C
Surrounding Variants
48 papers
NM_181486.4
p.G80R
c.238G>A
5 papers
NM_181486.4
p.A79V
c.236C>T
1 paper
NM_181486.4
p.G80G
c.240A>C
1 paper
NM_181486.4
p.A79P
c.235G>C
1 paper
NM_181486.4
p.R81W
c.241A>T
3 papers
NM_181486.4
p.R81Splc
c.242+1G>A
1 paper
NM_181486.4
p.K78E
c.232A>G
1 paper
NM_181486.4
p.R81Splc
c.242+4A>G
1 paper
NM_181486.4
p.R81Splc
c.242+5G>A
1 paper
NM_181486.4
p.R81Splc
c.242+7T>C
1 paper
NM_181486.4
p.I75M
c.225C>G
6 papers
NM_181486.4
p.M74I
c.222G>T
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."