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

2 papers

NM_002661.5

p.R665Q

c.1994G>A

Surrounding Variants

40 papers

NM_002661.5

p.R665W

c.1993C>T

1 paper

NM_002661.5

p.P664H

c.1991C>A

1 paper

NM_002661.5

p.P664L

c.1991C>T

4 papers

NM_002661.5

p.P664S

c.1990C>T

1 paper

NM_002661.5

p.G667R

c.1999G>A

1 paper

NM_002661.5

p.G667R

c.1999G>C

2 papers

NM_002661.5

p.G667E

c.2000G>A

1 paper

NM_002661.5

p.I663N

c.1988T>A

1 paper

NM_002661.5

p.R662M

c.1985G>T

1 paper

NM_002661.5

p.L670R

c.2009T>G

6 papers

NM_002661.5

p.I671V

c.2011A>G

1 paper

NM_002661.5

p.R672W

c.2014C>T