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

2 papers

NM_002661.5

p.S712T

c.2135G>C

Surrounding Variants

1 paper

NM_002661.5

p.Y709F

c.2126A>T

1 paper

NM_002661.5

p.L716L

c.2148C>T

16 papers

NM_002661.5

p.A708P

c.2122G>C

1 paper

NM_002661.5

p.V717I

c.2149G>A

65 papers

NM_002661.5

p.S707Y

c.2120C>A

3 papers

NM_002661.5

p.S707C

c.2120C>G

17 papers

NM_002661.5

p.S707F

c.2120C>T

3 papers

NM_002661.5

p.S707T

c.2119T>A

7 papers

NM_002661.5

p.S707P

c.2119T>C

2 papers

NM_002661.5

p.S707A

c.2119T>G

1 paper

NM_002661.5

p.S718R

c.2152A>C

1 paper

NM_002661.5

p.S718G

c.2152A>G