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

19 papers

NM_033123.4

p.H233L

c.698A>T

Surrounding Variants

1 paper

NM_033123.4

p.K226I

c.677A>T

7 papers

NM_033123.4

p.L224P

c.671T>C

1 paper

NM_033123.4

p.L223P

c.668T>C

1 paper

NM_033123.4

p.K222E

c.664A>G

1 paper

NM_033123.4

p.D205N

c.613G>A

1 paper

NM_033123.4

p.W204*

c.612G>A

1 paper

NM_033123.4

p.W204*

c.611G>A

1 paper

NM_033123.4

p.R197L

c.590G>T

10 papers

NM_033123.4

p.R197H

c.590G>A

13 papers

NM_033123.4

p.C196*

c.588C>A

5 papers

NM_033123.4

p.V189fs

c.565_566fs

1 paper

NM_033123.4

p.D163E

c.489T>G