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

1–12 of 139 variants

19 papers

NM_033123.4

p.H233L

c.698A>T

19 papers

NM_033123.4

p.H398P

c.1193A>C

13 papers

NM_033123.4

p.C196*

c.588C>A

12 papers

NM_033123.4

p.I489F

c.1465A>T

10 papers

NM_033123.4

p.R197H

c.590G>A

9 papers

NM_033123.4

p.M578T

c.1733T>C

8 papers

NM_033123.4

p.P420L

c.1259C>T

7 papers

NM_033123.4

p.L224P

c.671T>C

7 papers

NM_033123.4

p.L246F

c.736C>T

7 papers

NM_033123.4

p.L277P

c.830T>C

7 papers

NM_033123.4

p.S500L

c.1499C>T

7 papers

NM_033123.4

p.R553P

c.1658G>C