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.M578L

c.1732A>T

Surrounding Variants

1 paper

NM_033123.4

p.M578L

c.1732A>C

9 papers

NM_033123.4

p.M578T

c.1733T>C

5 papers

NM_033123.4

p.L576P

c.1727T>C

1 paper

NM_033123.4

p.L575R

c.1724T>G

1 paper

NM_033123.4

p.P574S

c.1720C>T

1 paper

NM_033123.4

p.T572P

c.1714A>C

1 paper

NM_033123.4

p.Y571Y

c.1713T>C

7 papers

NM_033123.4

p.R553P

c.1658G>C

1 paper

NM_033123.4

p.R553C

c.1657C>T

1 paper

NM_033123.4

p.P547R

c.1640C>G

3 papers

NM_033123.4

p.W536*

c.1608G>A

3 papers

NM_033123.4

p.W536*

c.1607G>A