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.S542R

c.1624A>C

Surrounding Variants

1 paper

NM_002661.5

p.S542R

c.1626T>A

1 paper

NM_002661.5

p.S542R

c.1626T>G

1 paper

NM_002661.5

p.E544K

c.1630G>A

4 papers

NM_002661.5

p.Q548R

c.1643A>G

1 paper

NM_002661.5

p.W532C

c.1596G>C

1 paper

NM_002661.5

p.W532C

c.1596G>T

1 paper

NM_002661.5

p.C551W

c.1653C>G

1 paper

NM_002661.5

p.M552fs

c.1654_1655fs

1 paper

NM_002661.5

p.M552delFs

c.1655delT

1 paper

NM_002661.5

p.E530D

c.1590G>C

1 paper

NM_002661.5

p.E530D

c.1590G>T

2 papers

NM_002661.5

p.F528C

c.1583T>G