Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.A50T

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.A50T
c.148G>A
Surrounding Variants
1 paper
NM_002448.3
p.G49G
c.147G>A
1 paper
NM_002448.3
p.G49A
c.146G>C
1 paper
NM_002448.3
p.G49R
c.145G>A
1 paper
NM_002448.3
p.G49R
c.145G>C
1 paper
NM_002448.3
p.E48*
c.142G>T
1 paper
NM_002448.3
p.P52L
c.155C>T
1 paper
NM_002448.3
p.D46D
c.138C>T
3 papers
NM_002448.3
p.D46_P56del11
c.136_167del33
1 paper
NM_002448.3
p.A45T
c.133G>A
1 paper
NM_002448.3
p.G44_A45delFs
c.131_134del4
1 paper
NM_002448.3
p.P56L
c.167C>T
4 papers
NM_002448.3
p.M43L
c.127A>C
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