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

17 papers

NM_002661.5

p.H193Q

c.579C>G

Surrounding Variants

17 papers

NM_002661.5

p.H193Q

c.579C>A

1 paper

NM_002661.5

p.H193N

c.577C>A

1 paper

NM_002661.5

p.Q201E

c.601C>G

1 paper

NM_002661.5

p.F205delFs

c.615delC

1 paper

NM_002661.5

p.F205L

c.615C>G

1 paper

NM_002661.5

p.Y206F

c.617A>T

1 paper

NM_002661.5

p.K208insFs

c.624dupA

1 paper

NM_002661.5

p.L209F

c.625C>T

1 paper

NM_002661.5

p.L209fs

c.625_626fs

1 paper

NM_002661.5

p.L209L

c.627T>A

1 paper

NM_002661.5

p.S216delFs

c.647delC

1 paper

NM_002661.5

p.S216L

c.647C>T