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

1–12 of 351 variants

48 papers

NM_002660.3

p.S345F

c.1034C>T

22 papers

NM_002660.3

p.R48W

c.142C>T

21 papers

NM_002660.3

p.E1163K

c.3487G>A

17 papers

NM_002660.3

p.S520F

c.1559C>T

17 papers

NM_002660.3

p.D1165H

c.3493G>C

16 papers

NM_002660.3

p.R707Q

c.2120G>A

14 papers

NM_002660.3

p.I813T

c.2438T>C

8 papers

NM_002660.3

p.S279G

c.835A>G

8 papers

NM_002660.3

p.G869E

c.2606G>A

6 papers

NM_002660.3

p.D342N

c.1024G>A

5 papers

NM_002660.3

p.E47K

c.139G>A

5 papers

NM_002660.3

p.S1021F

c.3062C>T