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.G53E

c.158G>A

Surrounding Variants

1 paper

NM_033123.4

p.D46N

c.136G>A

4 papers

NM_033123.4

p.K45_D46Splc

c.136-1G>C

1 paper

NM_033123.4

p.I74T

c.221T>C

1 paper

NM_033123.4

p.E75_Y80insFs

c.224_240dup17

1 paper

NM_033123.4

p.E82G

c.245A>G

1 paper

NM_033123.4

p.R84W

c.250C>T

1 paper

NM_033123.4

p.R84_K85delFs

c.250_253del4

2 papers

NM_033123.4

p.Q94*

c.280C>T

1 paper

NM_033123.4

p.Y101F

c.302A>T

1 paper

NM_033123.4

p.Y101*

c.303T>A

1 paper

NM_033123.4

p.I114delFs

c.341_342delAA

1 paper

NM_033123.4

p.E118D

c.354G>T