Varaico: Literature-Extracted Genetic Variants

Gene:HOXD13
Variant:p.R306G

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
4 papers
NM_000523.4
p.R306G
c.916C>G
Surrounding Variants
6 papers
NM_000523.4
p.R306W
c.916C>T
9 papers
NM_000523.4
p.R306Q
c.917G>A
2 papers
NM_000523.4
p.R306L
c.917G>T
1 paper
NM_000523.4
p.R307W
c.919C>T
1 paper
NM_000523.4
p.R307_R308delFs
c.921_924del4
1 paper
NM_000523.4
p.R308H
c.923G>A
1 paper
NM_000523.4
p.K303_D304ins1
c.909_910insAAT
1 paper
NM_000523.4
p.K303ins1
c.908_909insAAT
5 papers
NM_000523.4
p.I309F
c.925A>T
1 paper
NM_000523.4
p.S310_A311insFs
c.930_931insG
1 paper
NM_000523.4
p.S310S
c.930G>C
1 paper
NM_000523.4
p.A311P
c.931G>C
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