Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.S254P

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.S254P
c.760T>C
Surrounding Variants
4 papers
NM_002448.3
p.F251fs
c.751_752fs
2 papers
NM_002448.3
p.A250_F251insFs
c.750_751ins10
1 paper
NM_002448.3
p.G258G
c.774C>G
1 paper
NM_002448.3
p.G258G
c.774C>T
4 papers
NM_002448.3
p.P260T
c.778C>A
5 papers
NM_002448.3
p.P247S
c.739C>T
4 papers
NM_002448.3
p.A250_F251insFs
c.750_751ins10
1 paper
NM_002448.3
p.M245delFs
c.734delT
1 paper
NM_002448.3
p.P244R
c.731C>G
1 paper
NM_002448.3
p.A264fs
c.790_791fs
2 papers
NM_002448.3
p.A264_A265insFs
c.792_793insC
3 papers
NM_002448.3
p.A265insFs
c.793_794insC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."