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

22 papers

NM_002661.5

p.L848P

c.2543T>C

Surrounding Variants

1 paper

NM_002661.5

p.L848H

c.2543T>A

4 papers

NM_002661.5

p.L848R

c.2543T>G

2 papers

NM_002661.5

p.L848F

c.2542C>T

2 papers

NM_002661.5

p.C849R

c.2545T>C

5 papers

NM_002661.5

p.L848del1

c.2542_2543delCTT

1 paper

NM_002661.5

p.C849W

c.2547C>G

36 papers

NM_002661.5

p.L845F

c.2535A>C

36 papers

NM_002661.5

p.L845F

c.2535A>T

2 papers

NM_002661.5

p.L845*

c.2534T>A

5 papers

NM_002661.5

p.L845S

c.2534T>C

2 papers

NM_002661.5

p.L845*

c.2534T>G

3 papers

NM_002661.5

p.L845V

c.2533T>G