Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.L125L

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
1 paper
NM_000523.4
p.L125L
c.373C>T
Surrounding Variants
1 paper
NM_000523.4
p.L125L
c.375G>A
1 paper
NM_000523.4
p.G126D
c.377G>A
1 paper
NM_000523.4
p.G126G
c.378C>T
1 paper
NM_000523.4
p.A122V
c.365C>T
1 paper
NM_000523.4
p.S121N
c.362G>A
1 paper
NM_000523.4
p.P120Q
c.359C>A
1 paper
NM_000523.4
p.P120A
c.358C>G
1 paper
NM_000523.4
p.A118S
c.352G>T
1 paper
NM_000523.4
p.A117V
c.350C>T
2 papers
NM_000523.4
p.N133D
c.397A>G
1 paper
NM_000523.4
p.A116_P120delFs
c.347_360del14
2 papers
NM_000523.4
p.P112L
c.335C>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."