Varaico: Literature-Extracted Genetic Variants

PLCL2

3p24.3 (UCSC)OMIM GTEx

43 papers

Pfam Domains

PH_12aa 135–251UCSCPleckstrin homology domain

EF-hand_likeaa 334–419UCSCPhosphoinositide-specific phospholipase C, efhand-like

PI-PLC-Xaa 428–571UCSCPhosphatidylinositol-specific phospholipase C, X domain

Gene Aliases

HGNC Name

phospholipase C like 2

HGNC Previous Symbol

PLCE2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 30 variants

2 papers

NM_001144382.2

p.G8D

c.23G>A

2 papers

NM_001144382.2

p.P985S

c.2953C>T

2 papers

NM_001144382.2

p.G1096R

c.3286G>A

2 papers

NM_001144382.2

p.G1096R

c.3286G>C

1 paper

NM_001144382.2

p.G19D

c.56G>A

1 paper

NM_001144382.2

p.E34G

c.101A>G

1 paper

NM_001144382.2

p.S64F

c.191C>T

1 paper

NM_001144382.2

p.R69Q

c.206G>A

1 paper

NM_001144382.2

p.R69R

c.207G>A

1 paper

NM_001144382.2

p.G78G

c.234C>A

1 paper

NM_001144382.2

p.R173G

c.517A>G

1 paper

NM_001144382.2

p.G197E

c.590G>A