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

16 papers

NM_002660.3

p.R707Q

c.2120G>A

Surrounding Variants

1 paper

NM_002660.3

p.R707L

c.2120G>T

1 paper

NM_002660.3

p.R696W

c.2086C>T

2 papers

NM_002660.3

p.R694Q

c.2081G>A

1 paper

NM_002660.3

p.G689V

c.2066G>T

1 paper

NM_002660.3

p.R684R

c.2052C>T

2 papers

NM_002660.3

p.A708P

c.2122G>C

1 paper

NM_002660.3

p.K713N

c.2139G>C

1 paper

NM_002660.3

p.K713N

c.2139G>T

1 paper

NM_002660.3

p.A671S

c.2011G>T

1 paper

NM_002660.3

p.Q718K

c.2152C>A

1 paper

NM_002660.3

p.W668*

c.2004G>A

1 paper

NM_002660.3

p.W668*

c.2003G>A