Varaico: Literature-Extracted Genetic Variants

PLCG1

355 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and pla...

Pfam Domains

PHaa 33–142UCSCPH domain

EF_HAND_1_PLCGaa 145–220UCSCPLCG EF-hand motif 1

EF_HAND_2_PLCGaa 243–313UCSCPLCG EF-hand motif 2

PI-PLC-Xaa 322–465UCSCPhosphatidylinositol-specific phospholipase C, X domain

SH2aa 550–639UCSCSH2 domain

SH2aa 668–741UCSCSH2 domain

Gene Aliases

HGNC Name

phospholipase C gamma 1

HGNC Previous Symbol

PLC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002660.3

p.L455F

c.1363C>T

Surrounding Variants

1 paper

NM_002660.3

p.I459S

c.1376T>G

1 paper

NM_002660.3

p.G448E

c.1343G>A

1 paper

NM_002660.3

p.K462K

c.1386G>A

2 papers

NM_002660.3

p.K462_H463Splc

c.1386+1G>A

1 paper

NM_002660.3

p.K440Q

c.1318A>C

2 papers

NM_002660.3

p.V432L

c.1294G>C

2 papers

NM_002660.3

p.V432L

c.1294G>T

1 paper

NM_002660.3

p.D415N

c.1243G>A

1 paper

NM_002660.3

p.I413S

c.1238T>G

1 paper

NM_002660.3

p.L411P

c.1232T>C

1 paper

NM_002660.3

p.V409I

c.1225G>A

1 paper

NM_002660.3

p.K464E

c.1390A>G