Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.E135K

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.E135K
c.403G>A
Surrounding Variants
1 paper
NM_002448.3
p.V132delFs
c.394delG
1 paper
NM_002448.3
p.L131_A134del4
c.391_401del12
2 papers
NM_002448.3
p.E141delFs
c.421delG
1 paper
NM_002448.3
p.E141fs
c.421_422fs
1 paper
NM_002448.3
p.E141fs
c.421_422fs
2 papers
NM_002448.3
p.E128G
c.383A>G
2 papers
NM_002448.3
p.R142M
c.425G>T
2 papers
NM_002448.3
p.P127L
c.380C>T
4 papers
NM_002448.3
p.W145_R150delFs
c.433_449del17
1 paper
NM_002448.3
p.T143I
c.428C>T
1 paper
NM_002448.3
p.P144_W145insFs
c.432_433insC
2 papers
NM_002448.3
p.W145fs
c.433_434fs
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