Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.P175Q

MSX1

233 papers

RefSeq Summary

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the cor...

Pfam Domains

Homeodomainaa 173–229UCSCHomeodomain

Gene Aliases

HGNC Name

msh homeobox 1

HGNC Previous Symbol

HOX7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002448.3
p.P175Q
c.524C>A
Surrounding Variants
9 papers
NM_002448.3
p.R176W
c.526C>T
1 paper
NM_002448.3
p.R176Q
c.527G>A
5 papers
NM_002448.3
p.R173S
c.517C>A
1 paper
NM_002448.3
p.T171M
c.512C>T
1 paper
NM_002448.3
p.T171insFs
c.512_513insGC
1 paper
NM_002448.3
p.T180S
c.539C>G
4 papers
NM_002448.3
p.T180I
c.539C>T
1 paper
NM_002448.3
p.T181T
c.543C>T
1 paper
NM_002448.3
p.R167L
c.500G>T
1 paper
NM_002448.3
p.T165N
c.494C>A
9 papers
NM_002448.3
p.L187L
c.559C>T
5 papers
NM_002448.3
p.F191insFs
c.572_573ins7
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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."