Varaico: Literature-Extracted Genetic Variants

Gene:DLX5
Variant:p.S96fs

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.S96fs
c.286_287fs
Surrounding Variants
1 paper
NM_005221.6
p.S96insFs
c.286_287insA
1 paper
NM_005221.6
p.H102H
c.306C>T
1 paper
NM_005221.6
p.A89T
c.265G>A
1 paper
NM_005221.6
p.P88S
c.262C>T
1 paper
NM_005221.6
p.A107T
c.319G>A
2 papers
NM_005221.6
p.A84A
c.252C>G
1 paper
NM_005221.6
p.A114T
c.340G>A
1 paper
NM_005221.6
p.Y73*
c.219C>G
1 paper
NM_005221.6
p.Y73*
c.219C>A
1 paper
NM_005221.6
p.Y66N
c.196T>A
1 paper
NM_005221.6
p.P61R
c.182C>G
1 paper
NM_005221.6
p.P55insFs
c.163dupC
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