Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.R280K

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.R280K
c.839G>A
Surrounding Variants
1 paper
NM_000523.4
p.V281_L286insFs
c.841_857dup17
1 paper
NM_000523.4
p.V281_K289insFs
c.843_865dup23
1 paper
NM_000523.4
p.K278T
c.833A>C
4 papers
NM_000523.4
p.K278delFs
c.834delG
1 paper
NM_000523.4
p.R277delFs
c.831delG
1 paper
NM_000523.4
p.K285_L291delFs
c.855_871del17
1 paper
NM_000523.4
p.L286insFs
c.857dupT
1 paper
NM_000523.4
p.R274Q
c.821G>A
1 paper
NM_000523.4
p.L286delFs
c.858delG
7 papers
NM_000523.4
p.R274*
c.820C>T
1 paper
NM_000523.4
p.Y273*
c.819C>A
1 paper
NM_000523.4
p.Y273*
c.819C>G
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