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

3 papers

NM_002661.5

p.R694H

c.2081G>A

Surrounding Variants

1 paper

NM_002661.5

p.R694L

c.2081G>T

1 paper

NM_002661.5

p.H692L

c.2075A>T

3 papers

NM_002661.5

p.R697W

c.2089C>T

7 papers

NM_002661.5

p.G699S

c.2095G>A

1 paper

NM_002661.5

p.G688D

c.2063G>A

2 papers

NM_002661.5

p.R687S

c.2061G>C

2 papers

NM_002661.5

p.R687S

c.2061G>T

1 paper

NM_002661.5

p.H701R

c.2102A>G

1 paper

NM_002661.5

p.R687W

c.2059A>T

1 paper

NM_002661.5

p.A686S

c.2056G>T

1 paper

NM_002661.5

p.L704V

c.2110C>G

4 papers

NM_002661.5

p.R685Splc

c.2055-8T>C