Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.M43L

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
4 papers
NM_002448.3
p.M43L
c.127A>C
Surrounding Variants
4 papers
NM_002448.3
p.M43L
c.127A>T
3 papers
NM_002448.3
p.M43fs
c.127_128fs
4 papers
NM_002448.3
p.M43_G49delFs
c.128_147del20
1 paper
NM_002448.3
p.G44_A45delFs
c.131_134del4
1 paper
NM_002448.3
p.A41A
c.123C>G
1 paper
NM_002448.3
p.A45T
c.133G>A
21 papers
NM_002448.3
p.A40G
c.119C>G
3 papers
NM_002448.3
p.D46_P56del11
c.136_167del33
1 paper
NM_002448.3
p.A40P
c.118G>C
1 paper
NM_002448.3
p.D46D
c.138C>T
1 paper
NM_002448.3
p.E48*
c.142G>T
1 paper
NM_002448.3
p.A38delFs
c.112delG
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