Varaico: Literature-Extracted Genetic Variants

PLCG2

580 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and d...

Pfam Domains

PH_12aa 32–131UCSCPleckstrin homology domain

EF_HAND_1_PLCGaa 134–209UCSCPLCG EF-hand motif 1

EF_HAND_2_PLCGaa 235–305UCSCPLCG EF-hand motif 2

PI-PLC-Xaa 314–457UCSCPhosphatidylinositol-specific phospholipase C, X domain

SH2aa 532–617UCSCSH2 domain

SH2aa 646–720UCSCSH2 domain

Gene Aliases

HGNC Name

phospholipase C gamma 2

HGNC Previous Name

phospholipase C, gamma 2 (phosphatidylinositol-specific)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002661.5

p.Q1008*

c.3022C>T

Surrounding Variants

1 paper

NM_002661.5

p.M1009T

c.3026T>C

1 paper

NM_002661.5

p.A1011T

c.3031G>A

3 papers

NM_002661.5

p.L1012V

c.3034C>G

1 paper

NM_002661.5

p.R1001H

c.3002G>A

1 paper

NM_002661.5

p.F1000V

c.2998T>G

1 paper

NM_002661.5

p.T1016M

c.3047C>T

1 paper

NM_002661.5

p.P999L

c.2996C>T

1 paper

NM_002661.5

p.Y997Y

c.2991C>T

1 paper

NM_002661.5

p.D993E

c.2979C>A

1 paper

NM_002661.5

p.D993E

c.2979C>G

2 papers

NM_002661.5

p.D993A

c.2978A>C

21 papers

NM_002661.5

p.D993G

c.2978A>G