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

1–12 of 682 variants

68 papers

NM_002661.5

p.P522R

c.1565C>G

65 papers

NM_002661.5

p.S707Y

c.2120C>A

40 papers

NM_002661.5

p.R665W

c.1993C>T

36 papers

NM_002661.5

p.L845F

c.2535A>C

36 papers

NM_002661.5

p.L845F

c.2535A>T

24 papers

NM_002661.5

p.M1141K

c.3422T>A

22 papers

NM_002661.5

p.L848P

c.2543T>C

21 papers

NM_002661.5

p.D993G

c.2978A>G

20 papers

NM_002661.5

p.M28L

c.82A>T

19 papers

NM_002661.5

p.M28L

c.82A>C

17 papers

NM_002661.5

p.H193Q

c.579C>A

17 papers

NM_002661.5

p.H193Q

c.579C>G