Varaico: Literature-Extracted Genetic Variants

Gene:HOXC9
Variant:p.M250I

HOXC9

38 papers

RefSeq Summary

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organi...

Pfam Domains

Hox9_actaa 1–179UCSCHox9 activation region
Homeodomainaa 193–249UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox C9

HGNC Previous Symbols

HOX3; HOX3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006897.3
p.M250I
c.750G>C
Surrounding Variants
2 papers
NM_006897.3
p.M250I
c.750G>A
2 papers
NM_006897.3
p.M250I
c.750G>T
1 paper
NM_006897.3
p.M250V
c.748A>G
1 paper
NM_006897.3
p.M247fs
c.739_740fs
1 paper
NM_006897.3
p.R222W
c.664C>T
1 paper
NM_006897.3
p.L217*
c.650T>A
1 paper
NM_006897.3
p.L217*
c.650T>G
1 paper
NM_006897.3
p.K195R
c.584A>G
1 paper
NM_006897.3
p.R193K
c.578G>A
1 paper
NM_006897.3
p.H188H
c.564C>T
1 paper
NM_006897.3
p.V183M
c.547G>A
1 paper
NM_006897.3
p.A175A
c.525C>T
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