Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.L315L

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.L315L
c.945A>C
Surrounding Variants
6 papers
NM_000523.4
p.S316C
c.947C>G
1 paper
NM_000523.4
p.L315_S316delFs
c.945_948del4
1 paper
NM_000523.4
p.E317*
c.949G>T
8 papers
NM_000523.4
p.N314H
c.940A>C
8 papers
NM_000523.4
p.E317G
c.950A>G
1 paper
NM_000523.4
p.N314_L315del2
c.940_944del6
6 papers
NM_000523.4
p.T313R
c.938C>G
1 paper
NM_000523.4
p.T313A
c.937A>G
2 papers
NM_000523.4
p.A312_T313insFs
c.936_937insT
5 papers
NM_000523.4
p.Q319*
c.955C>T
1 paper
NM_000523.4
p.A311P
c.931G>C
1 paper
NM_000523.4
p.S310S
c.930G>C
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