Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.L234insFs

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.L234insFs
c.702dupG
Surrounding Variants
1 paper
NM_000523.4
p.L234insFs
c.701_702insT
1 paper
NM_000523.4
p.N236fs
c.706_707fs
1 paper
NM_000523.4
p.N236fs
c.706_707fs
1 paper
NM_000523.4
p.W232C
c.696G>C
1 paper
NM_000523.4
p.W232C
c.696G>T
3 papers
NM_000523.4
p.N236delFs
c.708delC
1 paper
NM_000523.4
p.N236_S240delFs
c.708_720del13
1 paper
NM_000523.4
p.G237fs
c.709_710fs
1 paper
NM_000523.4
p.Y229C
c.686A>G
1 paper
NM_000523.4
p.G228E
c.683G>A
1 paper
NM_000523.4
p.G228A
c.683G>C
3 papers
NM_000523.4
p.G228V
c.683G>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."