Varaico: Literature-Extracted Genetic Variants

Gene:DLX5
Variant:p.S229P

DLX5

94 papers

RefSeq Summary

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mut...

Pfam Domains

DLL_Naa 32–118UCSCHomeobox protein distal-less-like N terminal
Homeodomainaa 138–194UCSCHomeodomain

Gene Aliases

HGNC Name

distal-less homeobox 5

HGNC Previous Name

distal-less homeo box 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005221.6
p.S229P
c.685T>C
Surrounding Variants
1 paper
NM_005221.6
p.R231H
c.692G>A
1 paper
NM_005221.6
p.P226S
c.676C>T
1 paper
NM_005221.6
p.S234R
c.700A>C
1 paper
NM_005221.6
p.S234R
c.702C>G
2 papers
NM_005221.6
p.S234R
c.702C>A
1 paper
NM_005221.6
p.P241fs
c.721_722fs
1 paper
NM_005221.6
p.P241delFs
c.722delG
1 paper
NM_005221.6
p.T243A
c.727A>G
1 paper
NM_005221.6
p.E254Q
c.760G>C
2 papers
NM_005221.6
p.N255I
c.764A>T
1 paper
NM_005221.6
p.W259C
c.777G>T
1 paper
NM_005221.6
p.W259C
c.777G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."