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.V268L

c.802G>C

Surrounding Variants

1 paper

NM_002660.3

p.D269H

c.805G>C

1 paper

NM_002660.3

p.E264K

c.790G>A

1 paper

NM_002660.3

p.Q272R

c.815A>G

8 papers

NM_002660.3

p.S279G

c.835A>G

1 paper

NM_002660.3

p.L281I

c.841C>A

1 paper

NM_002660.3

p.E297V

c.890A>T

1 paper

NM_002660.3

p.G263V

c.788G>T

1 paper

NM_002660.3

p.Q262H

c.786G>C

1 paper

NM_002660.3

p.Q262H

c.786G>T

1 paper

NM_002660.3

p.Q262delFs

c.786delG

1 paper

NM_002660.3

p.Q262fs

c.784_785fs

1 paper

NM_002660.3

p.Y261H

c.781T>C