Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.R280H

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
2 papers
NM_002448.3
p.R280H
c.839G>A
Surrounding Variants
1 paper
NM_002448.3
p.R280S
c.838C>A
2 papers
NM_002448.3
p.R280C
c.838C>T
4 papers
NM_002448.3
p.A282delFs
c.844delG
4 papers
NM_002448.3
p.A282fs
c.844_845fs
1 paper
NM_002448.3
p.F278_A281del4
c.832_842del12
3 papers
NM_002448.3
p.P284S
c.850C>T
1 paper
NM_002448.3
p.G276V
c.827G>T
1 paper
NM_002448.3
p.G276_L283del8
c.826_848del24
1 paper
NM_002448.3
p.V285delFs
c.855delG
1 paper
NM_002448.3
p.S275A
c.823T>G
1 paper
NM_002448.3
p.A274T
c.820G>A
1 paper
NM_002448.3
p.G273A
c.818G>C
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