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

3 papers

NM_002660.3

p.D1019G

c.3056A>G

Surrounding Variants

5 papers

NM_002660.3

p.S1021F

c.3062C>T

3 papers

NM_002660.3

p.Q1016L

c.3047A>T

3 papers

NM_002660.3

p.G1015S

c.3043G>A

1 paper

NM_002660.3

p.Y1012H

c.3034T>C

1 paper

NM_002660.3

p.R1010H

c.3029G>A

1 paper

NM_002660.3

p.Q1034fs

c.3100_3101fs

1 paper

NM_002660.3

p.N1004S

c.3011A>G

1 paper

NM_002660.3

p.Y1003*

c.3009C>A

1 paper

NM_002660.3

p.Y1003*

c.3009C>G

1 paper

NM_002660.3

p.A1037T

c.3109G>A

1 paper

NM_002660.3

p.G997S

c.2989G>A

1 paper

NM_002660.3

p.E989K

c.2965G>A