Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM7
Variant:p.D408N

PDLIM7

180 papers

RefSeq Summary

The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety o...

Pfam Domains

PDZaa 3–82UCSCPDZ domain
LIMaa 282–337UCSCLIM domain
LIMaa 282–337UCSCLIM domain
LIMaa 341–396UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 7

HGNC Alias Symbol

ENIGMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005451.5
p.D408N
c.1222G>A
Surrounding Variants
1 paper
NM_005451.5
p.F405L
c.1215C>A
1 paper
NM_005451.5
p.D404G
c.1211A>G
1 paper
NM_005451.5
p.R412H
c.1235G>A
1 paper
NM_005451.5
p.F413V
c.1237T>G
1 paper
NM_005451.5
p.G402S
c.1204G>A
1 paper
NM_005451.5
p.L417P
c.1250T>C
1 paper
NM_005451.5
p.S420N
c.1259G>A
1 paper
NM_005451.5
p.M395T
c.1184T>C
1 paper
NM_005451.5
p.H422delFs
c.1265delT
2 papers
NM_005451.5
p.G410_F426del0
c.1229_1276del48
1 paper
NM_005451.5
p.V427I
c.1279G>A
1 paper
NM_005451.5
p.V427A
c.1280T>C
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