Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.L80L

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.L80L
c.240G>A
Surrounding Variants
1 paper
NM_002448.3
p.L80P
c.239T>C
2 papers
NM_002448.3
p.S83delFs
c.249delC
4 papers
NM_002448.3
p.E84fs
c.250_251fs
4 papers
NM_002448.3
p.E84V
c.251A>T
1 paper
NM_002448.3
p.E77_A81delFs
c.230_242del13
1 paper
NM_002448.3
p.K76M
c.227A>T
1 paper
NM_002448.3
p.V86_A88insFs
c.256_262dup7
6 papers
NM_002448.3
p.P73insFs
c.218_219insG
2 papers
NM_002448.3
p.P73L
c.218C>T
1 paper
NM_002448.3
p.A88V
c.263C>T
1 paper
NM_002448.3
p.A89T
c.265G>A
3 papers
NM_002448.3
p.A89A
c.267G>A
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