Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.W219C

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.W219C
c.657G>C
Surrounding Variants
4 papers
NM_002448.3
p.W219C
c.657G>T
1 paper
NM_002448.3
p.W219R
c.655T>A
1 paper
NM_002448.3
p.W219R
c.655T>C
1 paper
NM_002448.3
p.W219_F220insG
c.655_659ins3
1 paper
NM_002448.3
p.I218R
c.653T>G
1 paper
NM_002448.3
p.I218_W219insG
c.652_656ins3
5 papers
NM_002448.3
p.Q221P
c.662A>C
3 papers
NM_002448.3
p.N222insFs
c.665dupA
4 papers
NM_002448.3
p.N222fs
c.664_665fs
3 papers
NM_002448.3
p.N222_R223insFs
c.666_667insA
5 papers
NM_002448.3
p.R223G
c.667C>G
1 paper
NM_002448.3
p.R223C
c.667C>T
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