Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.P112L

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
2 papers
NM_000523.4
p.P112L
c.335C>T
Surrounding Variants
1 paper
NM_000523.4
p.P110S
c.328C>T
1 paper
NM_000523.4
p.A116_P120delFs
c.347_360del14
1 paper
NM_000523.4
p.P108P
c.324A>G
1 paper
NM_000523.4
p.P108_P112delFs
c.323_336del14
1 paper
NM_000523.4
p.C107*
c.321C>A
1 paper
NM_000523.4
p.A117V
c.350C>T
1 paper
NM_000523.4
p.A118S
c.352G>T
1 paper
NM_000523.4
p.E106K
c.316G>A
1 paper
NM_000523.4
p.K105fs
c.313_314fs
1 paper
NM_000523.4
p.P120A
c.358C>G
1 paper
NM_000523.4
p.K105delFs
c.314_315delAA
1 paper
NM_000523.4
p.P120Q
c.359C>A
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