Varaico: Literature-Extracted Genetic Variants

Gene:PLBD1
Variant:p.S272R

PLBD1

55 papers

Pfam Domains

Phospholip_Baa 66–544UCSCPhospholipase B

Gene Aliases

HGNC Name

phospholipase B domain containing 1

HGNC Alias Symbol

FLJ22662

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024829.6
p.S272R
c.816T>G
Surrounding Variants
1 paper
NM_024829.6
p.S272R
c.816T>A
1 paper
NM_024829.6
p.S272R
c.814A>C
5 papers
NM_024829.6
p.V265I
c.793G>A
1 paper
NM_024829.6
p.G282Splc
c.844+1G>T
1 paper
NM_024829.6
p.R256K
c.767G>A
1 paper
NM_024829.6
p.W248*
c.744G>A
1 paper
NM_024829.6
p.W248*
c.743G>A
1 paper
NM_024829.6
p.S247G
c.739A>G
1 paper
NM_024829.6
p.D224N
c.670G>A
1 paper
NM_024829.6
p.L203S
c.608T>C
1 paper
NM_024829.6
p.T185fs
c.553_554fs
1 paper
NM_024829.6
p.L172L
c.516C>G
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