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.E575K

c.1723G>A

Surrounding Variants

1 paper

NM_002660.3

p.T576A

c.1726A>G

2 papers

NM_002660.3

p.T576T

c.1728C>T

1 paper

NM_002660.3

p.A578D

c.1733C>A

1 paper

NM_002660.3

p.P579A

c.1735C>G

1 paper

NM_002660.3

p.P579L

c.1736C>T

1 paper

NM_002660.3

p.R567C

c.1699C>T

1 paper

NM_002660.3

p.E566V

c.1697A>T

1 paper

NM_002660.3

p.E589V

c.1766A>T

1 paper

NM_002660.3

p.R559H

c.1676G>A

2 papers

NM_002660.3

p.D594N

c.1780G>A

1 paper

NM_002660.3

p.T596M

c.1787C>T

2 papers

NM_002660.3

p.L597F

c.1789C>T