Varaico: Literature-Extracted Genetic Variants

Gene:MKX
Variant:p.S220G

MKX

39 papers

RefSeq Summary

The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Tw...

Pfam Domains

Homeobox_KNaa 88–127UCSCHomeobox KN domain

Gene Aliases

HGNC Name

mohawk homeobox

HGNC Previous Symbols

C10orf48; IRXL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173576.3
p.S220G
c.658A>G
Surrounding Variants
1 paper
NM_173576.3
p.R225C
c.673C>T
1 paper
NM_173576.3
p.R225L
c.674G>T
1 paper
NM_173576.3
p.S230F
c.689C>T
1 paper
NM_173576.3
p.T240A
c.718A>G
1 paper
NM_173576.3
p.I191delFs
c.573delA
1 paper
NM_173576.3
p.I191fs
c.571_572fs
1 paper
NM_173576.3
p.R248K
c.743G>A
1 paper
NM_173576.3
p.S251A
c.751T>G
1 paper
NM_173576.3
p.P185S
c.553C>T
1 paper
NM_173576.3
p.P185A
c.553C>G
2 papers
NM_173576.3
p.G180V
c.539G>T
4 papers
NM_173576.3
p.E179K
c.535G>A
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