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.G341R

c.1021G>A

Surrounding Variants

1 paper

NM_002660.3

p.G341R

c.1021G>C

6 papers

NM_002660.3

p.D342N

c.1024G>A

2 papers

NM_002660.3

p.D342Y

c.1024G>T

4 papers

NM_002660.3

p.D342G

c.1025A>G

1 paper

NM_002660.3

p.L339M

c.1015C>A

1 paper

NM_002660.3

p.S345C

c.1034C>G

48 papers

NM_002660.3

p.S345F

c.1034C>T

1 paper

NM_002660.3

p.S345delins

c.1034_1035delinsTT

1 paper

NM_002660.3

p.E351K

c.1051G>A

1 paper

NM_002660.3

p.R355C

c.1063C>T

1 paper

NM_002660.3

p.R355H

c.1064G>A

1 paper

NM_002660.3

p.R358Q

c.1073G>A