Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.S54A

MSX2

198 papers

RefSeq Summary

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis o...

Pfam Domains

Homeodomainaa 143–199UCSCHomeodomain

Gene Aliases

HGNC Name

msh homeobox 2

HGNC Previous Symbol

PFM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002449.5
p.S54A
c.160T>G
Surrounding Variants
1 paper
NM_002449.5
p.M53L
c.157A>C
1 paper
NM_002449.5
p.M53L
c.157A>T
1 paper
NM_002449.5
p.P59S
c.175C>T
1 paper
NM_002449.5
p.A62insFs
c.185dupC
1 paper
NM_002449.5
p.S63C
c.188C>G
1 paper
NM_002449.5
p.P66A
c.196C>G
1 paper
NM_002449.5
p.V42delFs
c.124_125delGT
1 paper
NM_002449.5
p.P66P
c.198G>A
1 paper
NM_002449.5
p.A72V
c.215C>T
1 paper
NM_002449.5
p.A34G
c.101C>G
1 paper
NM_002449.5
p.A34fs
c.100_101fs
1 paper
NM_002449.5
p.E32insFs
c.96dupG
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."