Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.L96R

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.L96R
c.287T>G
Surrounding Variants
1 paper
NM_002448.3
p.L96V
c.286C>G
1 paper
NM_002448.3
p.G97S
c.289G>A
3 papers
NM_002448.3
p.G97D
c.290G>A
1 paper
NM_002448.3
p.P99S
c.295C>T
5 papers
NM_002448.3
p.A93fs
c.277_278fs
1 paper
NM_002448.3
p.A93_Q94delFs
c.278_281del4
1 paper
NM_002448.3
p.P100_G101insC
c.298_302ins3
4 papers
NM_002448.3
p.A93delFs
c.277delG
9 papers
NM_002448.3
p.G91D
c.272G>A
1 paper
NM_002448.3
p.G101A
c.302G>C
3 papers
NM_002448.3
p.A89A
c.267G>A
10 papers
NM_002448.3
p.A89A
c.267G>C
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