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.E960*

c.2878G>T

Surrounding Variants

3 papers

NM_002661.5

p.T961M

c.2882C>T

5 papers

NM_002661.5

p.R956C

c.2866C>T

1 paper

NM_002661.5

p.R953Q

c.2858G>A

1 paper

NM_002661.5

p.I967V

c.2899A>G

1 paper

NM_002661.5

p.N949K

c.2847T>A

1 paper

NM_002661.5

p.V972V

c.2916C>T

1 paper

NM_002661.5

p.K980R

c.2939A>G

2 papers

NM_002661.5

p.T983I

c.2948C>T

2 papers

NM_002661.5

p.R984C

c.2950C>T

1 paper

NM_002661.5

p.R984H

c.2951G>A

1 paper

NM_002661.5

p.R984R

c.2952C>T

1 paper

NM_002661.5

p.G989E

c.2966G>A