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

Selected Variant

1 paper

NM_001144382.2

p.R497H

c.1490G>A

Surrounding Variants

1 paper

NM_001144382.2

p.M490V

c.1468A>G

1 paper

NM_001144382.2

p.G487S

c.1459G>A

1 paper

NM_001144382.2

p.N480N

c.1440T>C

1 paper

NM_001144382.2

p.V530I

c.1588G>A

1 paper

NM_001144382.2

p.S574L

c.1721C>T

1 paper

NM_001144382.2

p.V373E

c.1118T>A

1 paper

NM_001144382.2

p.Q371*

c.1111C>T

1 paper

NM_001144382.2

p.L347F

c.1039C>T

1 paper

NM_001144382.2

p.A657A

c.1971C>A

1 paper

NM_001144382.2

p.S262S

c.786T>C

1 paper

NM_001144382.2

p.V751V

c.2253C>G

1 paper

NM_001144382.2

p.G207A

c.620G>C