Varaico: Literature-Extracted Genetic Variants

PLCG1

355 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and pla...

Pfam Domains

PHaa 33–142UCSCPH domain

EF_HAND_1_PLCGaa 145–220UCSCPLCG EF-hand motif 1

EF_HAND_2_PLCGaa 243–313UCSCPLCG EF-hand motif 2

PI-PLC-Xaa 322–465UCSCPhosphatidylinositol-specific phospholipase C, X domain

SH2aa 550–639UCSCSH2 domain

SH2aa 668–741UCSCSH2 domain

Gene Aliases

HGNC Name

phospholipase C gamma 1

HGNC Previous Symbol

PLC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002660.3

p.P658L

c.1973C>T

Surrounding Variants

1 paper

NM_002660.3

p.P658Q

c.1973C>A

2 papers

NM_002660.3

p.N661N

c.1983C>T

1 paper

NM_002660.3

p.S654L

c.1961C>T

1 paper

NM_002660.3

p.E664K

c.1990G>A

1 paper

NM_002660.3

p.R645C

c.1933C>T

1 paper

NM_002660.3

p.L644_R645delins

c.1930_1933delinsTTGT

2 papers

NM_002660.3

p.Q641K

c.1921C>A

1 paper

NM_002660.3

p.T637M

c.1910C>T

1 paper

NM_002660.3

p.D630N

c.1888G>A

1 paper

NM_002660.3

p.V628_F629insFs

c.1884_1885insG

1 paper

NM_002660.3

p.D625Y

c.1873G>T

1 paper

NM_002660.3

p.E667Splc

c.2001-5C>T