Varaico: Literature-Extracted Genetic Variants

Gene:DLX5
Variant:p.G132S

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.G132S
c.394G>A
Surrounding Variants
1 paper
NM_005221.6
p.V127V
c.381G>A
1 paper
NM_005221.6
p.R138_K139insAGC
c.412_416ins9
1 paper
NM_005221.6
p.E124D
c.372G>T
1 paper
NM_005221.6
p.E124D
c.372G>C
1 paper
NM_005221.6
p.Q148*
c.442C>T
1 paper
NM_005221.6
p.Q153fs
c.457_458fs
1 paper
NM_005221.6
p.Q153delFs
c.457_458delTG
1 paper
NM_005221.6
p.R154G
c.460A>G
1 paper
NM_005221.6
p.R155S
c.465G>T
1 paper
NM_005221.6
p.R155S
c.465G>C
1 paper
NM_005221.6
p.L162I
c.484C>A
2 papers
NM_005221.6
p.Y161_L162insFs
c.482_485dup4
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