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

2 papers

NM_002660.3

p.I1092V

c.3274A>G

Surrounding Variants

1 paper

NM_002660.3

p.I1090I

c.3270C>A

3 papers

NM_002660.3

p.D1075V

c.3224A>T

1 paper

NM_002660.3

p.R1070Q

c.3209G>A

2 papers

NM_002660.3

p.V1063M

c.3187G>A

1 paper

NM_002660.3

p.M1055V

c.3163A>G

1 paper

NM_002660.3

p.P1046L

c.3137C>T

1 paper

NM_002660.3

p.D1044Splc

c.3131-9C>T

1 paper

NM_002660.3

p.A1037T

c.3109G>A

1 paper

NM_002660.3

p.Q1034fs

c.3100_3101fs

5 papers

NM_002660.3

p.S1021F

c.3062C>T

3 papers

NM_002660.3

p.D1019G

c.3056A>G

3 papers

NM_002660.3

p.Q1016L

c.3047A>T