Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.E292A

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.E292A
c.875A>C
Surrounding Variants
1 paper
NM_000523.4
p.K289insFs
c.866_867insG
1 paper
NM_000523.4
p.K289insFs
c.865dupA
2 papers
NM_000523.4
p.I297V
c.889A>G
2 papers
NM_000523.4
p.Q287*
c.859C>T
1 paper
NM_000523.4
p.N298_K299del1
c.894_896delCAA
2 papers
NM_000523.4
p.N298S
c.893A>G
1 paper
NM_000523.4
p.L286delFs
c.858delG
1 paper
NM_000523.4
p.L286insFs
c.857dupT
1 paper
NM_000523.4
p.K299delFs
c.897delA
1 paper
NM_000523.4
p.K299fs
c.895_896fs
1 paper
NM_000523.4
p.K285_L291delFs
c.855_871del17
1 paper
NM_000523.4
p.F300C
c.899T>G
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