Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.A71del1

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.A71del1
c.211_212delGCC
Surrounding Variants
1 paper
NM_000523.4
p.A70insFs
c.209_210ins5
1 paper
NM_000523.4
p.A70insFs
c.209_210ins16
4 papers
NM_000523.4
p.A71insFs
c.212dupC
1 paper
NM_000523.4
p.A71S
c.211G>T
1 paper
NM_000523.4
p.A71insFs
c.212_213ins8
1 paper
NM_000523.4
p.A69T
c.205G>A
2 papers
NM_000523.4
p.A68A
c.204G>A
1 paper
NM_000523.4
p.A69_A71ins1
c.207_212dup6
1 paper
NM_000523.4
p.A70ins7
c.209_210ins21
1 paper
NM_000523.4
p.A68P
c.202G>C
1 paper
NM_000523.4
p.A68_A71del0
c.204_212del9
1 paper
NM_000523.4
p.A67T
c.199G>A
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