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

5 papers

NM_033123.4

p.V189fs

c.565_566fs

Surrounding Variants

1 paper

NM_033123.4

p.D163E

c.489T>G

1 paper

NM_033123.4

p.D163E

c.489T>A

1 paper

NM_033123.4

p.M157I

c.471G>T

1 paper

NM_033123.4

p.M157I

c.471G>C

1 paper

NM_033123.4

p.M157I

c.471G>A

1 paper

NM_033123.4

p.D156fs

c.466_467fs

2 papers

NM_033123.4

p.Q155*

c.463C>T

2 papers

NM_033123.4

p.R141H

c.422G>A

1 paper

NM_033123.4

p.M138V

c.412A>G

4 papers

NM_033123.4

p.T135delFs

c.403_404delGT

6 papers

NM_033123.4

p.I120M

c.360C>G

1 paper

NM_033123.4

p.E118D

c.354G>T