Varaico: Literature-Extracted Genetic Variants

Gene:DLX5
Variant:p.S40C

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.S40C
c.119C>G
Surrounding Variants
3 papers
NM_005221.6
p.E39*
c.115G>T
1 paper
NM_005221.6
p.E39K
c.115G>A
1 paper
NM_005221.6
p.D46_Y47ins1
c.138_139insAGC
1 paper
NM_005221.6
p.E33*
c.97G>T
1 paper
NM_005221.6
p.E33K
c.97G>A
1 paper
NM_005221.6
p.Y48H
c.142T>C
1 paper
NM_005221.6
p.P55insFs
c.163dupC
1 paper
NM_005221.6
p.P61R
c.182C>G
1 paper
NM_005221.6
p.Y66N
c.196T>A
1 paper
NM_005221.6
p.P10S
c.28C>T
1 paper
NM_005221.6
p.Y73*
c.219C>G
1 paper
NM_005221.6
p.Y73*
c.219C>A
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