Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM7
Variant:p.H283Y

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.H283Y
c.847C>T
Surrounding Variants
3 papers
NM_005451.5
p.C282Y
c.845G>A
1 paper
NM_005451.5
p.C282R
c.844T>C
1 paper
NM_005451.5
p.C285W
c.855C>G
1 paper
NM_005451.5
p.V288D
c.863T>A
1 paper
NM_005451.5
p.G272_N275insFs
c.815_824dup10
1 paper
NM_005451.5
p.G272V
c.815G>T
1 paper
NM_005451.5
p.A266V
c.797C>T
1 paper
NM_005451.5
p.A266G
c.797C>G
1 paper
NM_005451.5
p.A264S
c.790G>T
1 paper
NM_005451.5
p.Q263R
c.788A>G
1 paper
NM_005451.5
p.V262V
c.786G>A
1 paper
NM_005451.5
p.R258H
c.773G>A
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