Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.R186*

HOXD13

254 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 79–181UCSCHox protein A13 N terminal
Homeodomainaa 277–333UCSCHomeodomain

Gene Aliases

HGNC Name

homeobox D13

HGNC Previous Symbols

HOX4I; SPD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000523.4
p.R186*
c.556C>T
Surrounding Variants
1 paper
NM_000523.4
p.R186Q
c.557G>A
1 paper
NM_000523.4
p.P184P
c.552A>C
1 paper
NM_000523.4
p.P184S
c.550C>T
1 paper
NM_000523.4
p.V183V
c.549G>T
1 paper
NM_000523.4
p.E189*
c.565G>T
1 paper
NM_000523.4
p.V183_S191del9
c.547_572del27
1 paper
NM_000523.4
p.E182Q
c.544G>C
2 papers
NM_000523.4
p.N181K
c.543C>A
2 papers
NM_000523.4
p.N181K
c.543C>G
2 papers
NM_000523.4
p.N181D
c.541A>G
1 paper
NM_000523.4
p.A180V
c.539C>T
1 paper
NM_000523.4
p.F192F
c.576C>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."