Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM7
Variant:p.P27P

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.P27P
c.81C>T
Surrounding Variants
1 paper
NM_005451.5
p.F24L
c.72C>A
1 paper
NM_005451.5
p.F24S
c.71T>C
1 paper
NM_005451.5
p.S31S
c.93C>G
1 paper
NM_005451.5
p.K22_D23delFs
c.64_67del4
1 paper
NM_005451.5
p.R32G
c.94C>G
1 paper
NM_005451.5
p.D23N
c.67G>A
1 paper
NM_005451.5
p.K22R
c.65A>G
1 paper
NM_005451.5
p.L18delFs
c.53delA
2 papers
NM_005451.5
p.L18P
c.53T>C
1 paper
NM_005451.5
p.R17L
c.50G>T
1 paper
NM_005451.5
p.P13T
c.37C>A
1 paper
NM_005451.5
p.A12S
c.34G>T
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