Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.K237N

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.K237N
c.711G>T
Surrounding Variants
4 papers
NM_002448.3
p.K237fs
c.709_710fs
4 papers
NM_002448.3
p.E236delFs
c.708delG
1 paper
NM_002448.3
p.K239N
c.717G>C
2 papers
NM_002448.3
p.A233T
c.697G>A
1 paper
NM_002448.3
p.E232*
c.694G>T
1 paper
NM_002448.3
p.Q231_E232insFs
c.693_694insT
1 paper
NM_002448.3
p.P244R
c.731C>G
1 paper
NM_002448.3
p.M245delFs
c.734delT
4 papers
NM_002448.3
p.L230P
c.689T>C
4 papers
NM_002448.3
p.A250_F251insFs
c.750_751ins10
5 papers
NM_002448.3
p.P247S
c.739C>T
4 papers
NM_002448.3
p.A227E
c.680C>A
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