Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM1
Variant:p.Y284Y

PDLIM1

45 papers

RefSeq Summary

This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl termi...

Pfam Domains

PDZaa 3–82UCSCPDZ domain
DUF4749aa 138–234UCSCDomain of unknown function (DUF4749)
LIMaa 260–314UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 1

HGNC Previous Symbol

CLIM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020992.4
p.Y284Y
c.852T>C
Surrounding Variants
1 paper
NM_020992.4
p.Y284F
c.851A>T
1 paper
NM_020992.4
p.R279C
c.835C>T
1 paper
NM_020992.4
p.T291S
c.872C>G
1 paper
NM_020992.4
p.N292S
c.875A>G
1 paper
NM_020992.4
p.K273R
c.818A>G
1 paper
NM_020992.4
p.V272M
c.814G>A
1 paper
NM_020992.4
p.E302A
c.905A>C
1 paper
NM_020992.4
p.Y306F
c.917A>T
1 paper
NM_020992.4
p.Q255E
c.763C>G
2 papers
NM_020992.4
p.A249V
c.746C>T
1 paper
NM_020992.4
p.P210R
c.629C>G
1 paper
NM_020992.4
p.P184L
c.551C>T
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