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.Q17R

c.50A>G

Surrounding Variants

1 paper

NM_002661.5

p.Q17P

c.50A>C

1 paper

NM_002661.5

p.S16R

c.48C>A

1 paper

NM_002661.5

p.S16R

c.48C>G

1 paper

NM_002661.5

p.S16R

c.46A>C

1 paper

NM_002661.5

p.K19E

c.55A>G

1 paper

NM_002661.5

p.E14E

c.42G>A

1 paper

NM_002661.5

p.E14delFs

c.42delG

1 paper

NM_002661.5

p.A21P

c.61G>C

1 paper

NM_002661.5

p.A21V

c.62C>T

1 paper

NM_002661.5

p.L22M

c.64C>A

1 paper

NM_002661.5

p.E12K

c.34G>A

2 papers

NM_002661.5

p.A11V

c.32C>T