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.F395delFs

c.1183delA

Surrounding Variants

1 paper

NM_033123.4

p.H398L

c.1193A>T

19 papers

NM_033123.4

p.H398P

c.1193A>C

1 paper

NM_033123.4

p.F397_H398ins0

c.1190_1192dupTTC

1 paper

NM_033123.4

p.K401_F402insFs

c.1203_1204insCT

4 papers

NM_033123.4

p.I403_T404del2

c.1207_1211del6

1 paper

NM_033123.4

p.A410T

c.1228G>A

1 paper

NM_033123.4

p.K409_A410insFs

c.1225_1228dup4

1 paper

NM_033123.4

p.R412fs

c.1234_1235fs

1 paper

NM_033123.4

p.R412T

c.1235G>C

5 papers

NM_033123.4

p.R412delFs

c.1234delT

6 papers

NM_033123.4

p.R412fs

c.1234_1235fs

1 paper

NM_033123.4

p.D414E

c.1242C>G