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

7 papers

NM_033123.4

p.L277P

c.830T>C

Surrounding Variants

1 paper

NM_033123.4

p.P285S

c.853C>T

1 paper

NM_033123.4

p.P285L

c.854C>T

1 paper

NM_033123.4

p.E288D

c.864G>C

1 paper

NM_033123.4

p.D262N

c.784G>A

1 paper

NM_033123.4

p.N250_S253del4

c.748_758del12

1 paper

NM_033123.4

p.H251Y

c.751C>T

7 papers

NM_033123.4

p.L246F

c.736C>T

1 paper

NM_033123.4

p.T303A

c.907A>G

1 paper

NM_033123.4

p.D314G

c.941A>G

1 paper

NM_033123.4

p.R316C

c.946C>T

1 paper

NM_033123.4

p.G317Splc

c.949+3A>G

2 papers

NM_033123.4

p.K322*

c.964A>T