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

14 papers

NM_002660.3

p.I813T

c.2438T>C

Surrounding Variants

1 paper

NM_002660.3

p.T811I

c.2432C>T

1 paper

NM_002660.3

p.A816P

c.2446G>C

2 papers

NM_002660.3

p.E809K

c.2425G>A

1 paper

NM_002660.3

p.R806M

c.2417G>T

1 paper

NM_002660.3

p.E822D

c.2466G>C

1 paper

NM_002660.3

p.E822D

c.2466G>T

1 paper

NM_002660.3

p.A798V

c.2393C>T

1 paper

NM_002660.3

p.K836M

c.2507A>T

1 paper

NM_002660.3

p.L839L

c.2517G>T

1 paper

NM_002660.3

p.S843L

c.2528C>T

3 papers

NM_002660.3

p.V846M

c.2536G>A

2 papers

NM_002660.3

p.N851N

c.2553C>T