Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.E141fs

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.E141fs
c.421_422fs
Surrounding Variants
1 paper
NM_002448.3
p.E141fs
c.421_422fs
2 papers
NM_002448.3
p.E141delFs
c.421delG
2 papers
NM_002448.3
p.R142M
c.425G>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
3 papers
NM_002448.3
p.W145*
c.434G>A
1 paper
NM_002448.3
p.W145L
c.434G>T
4 papers
NM_002448.3
p.W145*
c.435G>A
1 paper
NM_002448.3
p.E135K
c.403G>A
1 paper
NM_002448.3
p.P149T
c.445C>A
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