Varaico: Literature-Extracted Genetic Variants

PLCZ1

93 papers

RefSeq Summary

The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyz...

Pfam Domains

EF-hand_likeaa 63–148UCSCPhosphoinositide-specific phospholipase C, efhand-like

PI-PLC-Xaa 157–300UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 349–463UCSCPhosphatidylinositol-specific phospholipase C, Y domain

Gene Aliases

HGNC Name

phospholipase C zeta 1

HGNC Alias Symbols

NYD-SP27; PLCzeta; Czeta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033123.4

p.G331fs

c.991_992fs

Surrounding Variants

1 paper

NM_033123.4

p.G331delFs

c.992delC

1 paper

NM_033123.4

p.K336insFs

c.1006_1007insTA

1 paper

NM_001330774.2

p.K233I

c.698A>T

3 papers

NM_033123.4

p.V326fs

c.976_977fs

6 papers

NM_033123.4

p.T324_G325delFs

c.972_973delCT

6 papers

NM_033123.4

p.T324fs

c.970_971fs

1 paper

NM_033123.4

p.K339R

c.1016A>G

1 paper

NM_033123.4

p.E323K

c.967G>A

2 papers

NM_033123.4

p.K322*

c.964A>T

1 paper

NM_033123.4

p.G317Splc

c.949+3A>G

1 paper

NM_033123.4

p.R316C

c.946C>T

1 paper

NM_033123.4

p.D314G

c.941A>G