Varaico: Literature-Extracted Genetic Variants

Gene:HOXC13
Variant:p.N139H

HOXC13

69 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

HoxA13_Naa 54–168UCSCHox protein A13 N terminal
Homeodomainaa 261–317UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox C13

HGNC Previous Symbols

HOX3; HOX3G

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017410.3
p.N139H
c.415A>C
Surrounding Variants
1 paper
NM_017410.3
p.N137D
c.409A>G
7 papers
NM_017410.3
p.S135*
c.404C>A
9 papers
NM_017410.3
p.Y130*
c.390C>A
6 papers
NM_017410.3
p.Y130*
c.390C>G
1 paper
NM_017410.3
p.G127C
c.379G>T
1 paper
NM_017410.3
p.Y153C
c.458A>G
1 paper
NM_017410.3
p.S157L
c.470C>T
8 papers
NM_017410.3
p.L119fs
c.355_356fs
7 papers
NM_017410.3
p.L119delFs
c.355delC
1 paper
NM_017410.3
p.D164Y
c.490G>T
1 paper
NM_017410.3
p.T113P
c.337A>C
1 paper
NM_017410.3
p.T113fs
c.337_338fs
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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."