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

5 papers

NM_002660.3

p.E47K

c.139G>A

Surrounding Variants

22 papers

NM_002660.3

p.R48W

c.142C>T

1 paper

NM_002660.3

p.Q52R

c.155A>G

1 paper

NM_002660.3

p.V34V

c.102C>T

2 papers

NM_002660.3

p.Q59H

c.177G>C

2 papers

NM_002660.3

p.Q59H

c.177G>T

1 paper

NM_002660.3

p.V34D

c.101T>A

1 paper

NM_002660.3

p.V34A

c.101T>C

2 papers

NM_002660.3

p.T61M

c.182C>T

2 papers

NM_002660.3

p.R64L

c.191G>T

1 paper

NM_002660.3

p.G65R

c.193G>C

1 paper

NM_002660.3

p.A66V

c.197C>T

1 paper

NM_002660.3

p.D67N

c.199G>A