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

12 papers

NM_033123.4

p.I489F

c.1465A>T

Surrounding Variants

2 papers

NM_033123.4

p.I489S

c.1466T>G

1 paper

NM_033123.4

p.P495S

c.1483C>T

1 paper

NM_033123.4

p.P495L

c.1484C>T

1 paper

NM_033123.4

p.L496F

c.1486C>T

7 papers

NM_033123.4

p.S500L

c.1499C>T

1 paper

NM_033123.4

p.H498_S499insFs

c.1492_1495dup4

1 paper

NM_001330774.2

p.N398T

c.1193A>C

1 paper

NM_033123.4

p.V508A

c.1523T>C

1 paper

NM_033123.4

p.E511delFs

c.1532delT

1 paper

NM_033123.4

p.D518delFs

c.1553_1554delAT

1 paper

NM_033123.4

p.I527F

c.1579A>T

1 paper

NM_033123.4

p.N530fs

c.1588_1589fs