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.R727*

c.2179C>T

Surrounding Variants

2 papers

NM_002661.5

p.R727L

c.2180G>T

1 paper

NM_002661.5

p.L725F

c.2173C>T

1 paper

NM_002661.5

p.R732C

c.2194C>T

4 papers

NM_002661.5

p.E721K

c.2161G>A

3 papers

NM_002661.5

p.V735M

c.2203G>A

1 paper

NM_002661.5

p.S718R

c.2154T>A

1 paper

NM_002661.5

p.S718R

c.2154T>G

1 paper

NM_002661.5

p.S718R

c.2152A>C

1 paper

NM_002661.5

p.S718G

c.2152A>G

1 paper

NM_002661.5

p.T736I

c.2207C>T

1 paper

NM_002661.5

p.P737T

c.2209C>A

1 paper

NM_002661.5

p.V717I

c.2149G>A