Varaico: Literature-Extracted Genetic Variants

Gene:HOXC11
Variant:p.S49C

HOXC11

56 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

DUF3528aa 42–164UCSCProtein of unknown function (DUF3528)
Homeodomainaa 233–289UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox C11

HGNC Previous Symbol

HOX3H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014212.4
p.S49C
c.146C>G
Surrounding Variants
1 paper
NM_014212.4
p.P55S
c.163C>T
1 paper
NM_014212.4
p.P42A
c.124C>G
1 paper
NM_014212.4
p.P62R
c.185C>G
1 paper
NM_014212.4
p.C28*
c.84C>A
1 paper
NM_014212.4
p.R71Q
c.212G>A
1 paper
NM_014212.4
p.E24*
c.70G>T
1 paper
NM_014212.4
p.E24delFs
c.71delA
1 paper
NM_014212.4
p.S80P
c.238T>C
1 paper
NM_014212.4
p.R86W
c.256C>T
3 papers
NM_014212.4
p.S12S
c.36T>G
1 paper
NM_014212.4
p.S88S
c.264C>T
1 paper
NM_014212.4
p.V5L
c.13G>C
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