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.D1165V

c.3494A>T

Surrounding Variants

5 papers

NM_002660.3

p.D1165G

c.3494A>G

1 paper

NM_002660.3

p.D1165E

c.3495C>A

1 paper

NM_002660.3

p.D1165E

c.3495C>G

2 papers

NM_002660.3

p.D1165N

c.3493G>A

17 papers

NM_002660.3

p.D1165H

c.3493G>C

1 paper

NM_002660.3

p.M1166R

c.3497T>G

1 paper

NM_002660.3

p.F1167I

c.3499T>A

1 paper

NM_002660.3

p.F1167C

c.3500T>G

21 papers

NM_002660.3

p.E1163K

c.3487G>A

1 paper

NM_002660.3

p.E1163Q

c.3487G>C

3 papers

NM_002660.3

p.D1169G

c.3506A>G

1 paper

NM_002660.3

p.Q1170R

c.3509A>G