Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM4
Variant:p.R142C

PDLIM4

182 papers

Pfam Domains

PDZaa 4–81UCSCPDZ domain
DUF4749aa 147–229UCSCDomain of unknown function (DUF4749)
LIMaa 255–309UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 4

HGNC Alias Symbol

RIL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003687.4
p.R142C
c.424C>T
Surrounding Variants
1 paper
NM_003687.4
p.R142H
c.425G>A
1 paper
NM_003687.4
p.F143L
c.427T>C
1 paper
NM_003687.4
p.F143L
c.429T>A
1 paper
NM_003687.4
p.F143L
c.429T>G
1 paper
NM_003687.4
p.P144L
c.431C>T
1 paper
NM_003687.4
p.G149G
c.447C>A
1 paper
NM_003687.4
p.S132N
c.395G>A
1 paper
NM_003687.4
p.S132C
c.394A>T
1 paper
NM_003687.4
p.G129D
c.386G>A
1 paper
NM_003687.4
p.D128A
c.383A>C
1 paper
NM_003687.4
p.E127*
c.379G>T
1 paper
NM_003687.4
p.G125E
c.374G>A
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