Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.L187L

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
9 papers
NM_002448.3
p.L187L
c.559C>T
Surrounding Variants
5 papers
NM_002448.3
p.F191insFs
c.572_573ins7
4 papers
NM_002448.3
p.R189C
c.565C>T
5 papers
NM_002448.3
p.F191fs
c.571_572fs
1 paper
NM_002448.3
p.F191fs
c.571_572fs
5 papers
NM_002448.3
p.F191S
c.572T>C
1 paper
NM_002448.3
p.F191C
c.572T>G
1 paper
NM_002448.3
p.R192insFs
c.574_575insT
1 paper
NM_002448.3
p.T181T
c.543C>T
1 paper
NM_002448.3
p.R192H
c.575G>A
2 papers
NM_002448.3
p.R192_Q193ins1
c.576_577insTAG
6 papers
NM_002448.3
p.Q193*
c.577C>T
1 paper
NM_002448.3
p.T180S
c.539C>G
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