Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM4
Variant:p.R291H

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.R291H
c.872G>A
Surrounding Variants
1 paper
NM_003687.4
p.D297N
c.889G>A
1 paper
NM_003687.4
p.D297A
c.890A>C
1 paper
NM_003687.4
p.D297E
c.891C>A
1 paper
NM_003687.4
p.D297E
c.891C>G
1 paper
NM_003687.4
p.R299W
c.895C>T
1 paper
NM_003687.4
p.L300L
c.900C>G
1 paper
NM_003687.4
p.C302S
c.904T>A
1 paper
NM_003687.4
p.C302S
c.905G>C
1 paper
NM_003687.4
p.H305R
c.914A>G
2 papers
NM_003687.4
p.E277V
c.830A>T
1 paper
NM_003687.4
p.H305H
c.915C>T
1 paper
NM_003687.4
p.E277*
c.829G>T
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