Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.I199fs

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.I199fs
c.595_596fs
Surrounding Variants
3 papers
NM_002448.3
p.A200V
c.599C>T
2 papers
NM_002448.3
p.L197fs
c.589_590fs
4 papers
NM_002448.3
p.E201_R202delFs
c.603_604delGC
4 papers
NM_002448.3
p.L197_S198insFs
c.590_594dup5
2 papers
NM_002448.3
p.R202H
c.605G>A
7 papers
NM_002448.3
p.R202P
c.605G>C
4 papers
NM_002448.3
p.Q195*
c.583C>T
3 papers
NM_002448.3
p.A203T
c.607G>A
1 paper
NM_002448.3
p.A203S
c.607G>T
1 paper
NM_002448.3
p.A203fs
c.607_608fs
2 papers
NM_002448.3
p.K194R
c.581A>G
1 paper
NM_002448.3
p.K194E
c.580A>G
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