Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.K299delFs

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.K299delFs
c.897delA
Surrounding Variants
2 papers
NM_000523.4
p.N298S
c.893A>G
1 paper
NM_000523.4
p.K299fs
c.895_896fs
1 paper
NM_000523.4
p.N298_K299del1
c.894_896delCAA
2 papers
NM_000523.4
p.I297V
c.889A>G
1 paper
NM_000523.4
p.F300C
c.899T>G
1 paper
NM_000523.4
p.I301_S310ins3
c.901_930dup30
1 paper
NM_000523.4
p.K303ins1
c.908_909insAAT
1 paper
NM_000523.4
p.K303_D304ins1
c.909_910insAAT
1 paper
NM_000523.4
p.E292A
c.875A>C
4 papers
NM_000523.4
p.R306G
c.916C>G
6 papers
NM_000523.4
p.R306W
c.916C>T
9 papers
NM_000523.4
p.R306Q
c.917G>A
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