Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.I224_S225del1

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.I224_S225del1
c.672_674delCTC
Surrounding Variants
2 papers
NM_000523.4
p.I224_L234ins3
c.672_701dup30
1 paper
NM_000523.4
p.Y223C
c.668A>G
1 paper
NM_000523.4
p.S225_L234ins3
c.675_701dup27
1 paper
NM_000523.4
p.S225F
c.674C>T
2 papers
NM_000523.4
p.Y223_L234ins4
c.667_702dup36
1 paper
NM_000523.4
p.A222_S231ins3
c.664_693dup30
1 paper
NM_000523.4
p.A222_L234insFs
c.664_701dup38
1 paper
NM_000523.4
p.E221_S231ins3
c.663_692dup30
1 paper
NM_000523.4
p.E221K
c.661G>A
1 paper
NM_000523.4
p.E221_Q230del0
c.661_690del30
1 paper
NM_000523.4
p.G228E
c.683G>A
1 paper
NM_000523.4
p.G228A
c.683G>C
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