Varaico: Literature-Extracted Genetic Variants

Gene:HOXC5
Variant:p.D44H

HOXC5

23 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

Homeodomainaa 156–212UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox C5

HGNC Previous Symbols

HOX3D; HOX3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018953.4
p.D44H
c.130G>C
Surrounding Variants
2 papers
NM_018953.4
p.Y27C
c.80A>G
2 papers
NM_018953.4
p.P86L
c.257C>T
1 paper
NM_018953.4
p.P93H
c.278C>A
1 paper
NM_018953.4
p.E121K
c.361G>A
1 paper
NM_018953.4
p.E152Splc
c.454+5A>G
1 paper
NM_018953.4
p.E152Splc
c.454+225T>G
1 paper
NM_018953.4
p.D154V
c.461A>T
1 paper
NM_018953.4
p.Q166R
c.497A>G
1 paper
NM_018953.4
p.K172*
c.514A>T
1 paper
NM_018953.4
p.R178C
c.532C>T
1 paper
NM_018953.4
p.R183G
c.547C>G
1 paper
NM_018953.4
p.R183C
c.547C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."