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

24 papers

NM_002661.5

p.M1141K

c.3422T>A

Surrounding Variants

10 papers

NM_002661.5

p.M1141R

c.3422T>G

2 papers

NM_002661.5

p.M1141L

c.3421A>C

2 papers

NM_002661.5

p.M1141L

c.3421A>T

4 papers

NM_002661.5

p.D1140E

c.3420T>A

3 papers

NM_002661.5

p.F1142L

c.3424T>C

4 papers

NM_002661.5

p.D1140E

c.3420T>G

9 papers

NM_002661.5

p.D1140G

c.3419A>G

1 paper

NM_002661.5

p.D1140V

c.3419A>T

3 papers

NM_002661.5

p.F1142L

c.3426C>A

3 papers

NM_002661.5

p.F1142L

c.3426C>G

5 papers

NM_002661.5

p.D1140N

c.3418G>A

1 paper

NM_002661.5

p.D1140Y

c.3418G>T