Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM7
Variant:p.L112L

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.L112L
c.336C>G
Surrounding Variants
1 paper
NM_005451.5
p.S111fs
c.331_332fs
1 paper
NM_005451.5
p.K114N
c.342G>T
1 paper
NM_005451.5
p.A116T
c.346G>A
1 paper
NM_005451.5
p.R117G
c.349C>G
1 paper
NM_005451.5
p.P108R
c.323C>G
1 paper
NM_005451.5
p.R117Q
c.350G>A
1 paper
NM_005451.5
p.A107T
c.319G>A
1 paper
NM_005451.5
p.P118P
c.354C>A
1 paper
NM_005451.5
p.F106Y
c.317T>A
1 paper
NM_005451.5
p.T105P
c.313A>C
1 paper
NM_005451.5
p.R103fs
c.307_308fs
1 paper
NM_005451.5
p.R103insFs
c.307_308ins20
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