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.Y519C

c.1556A>G

Surrounding Variants

2 papers

NM_002660.3

p.Y518C

c.1553A>G

17 papers

NM_002660.3

p.S520F

c.1559C>T

1 paper

NM_002660.3

p.E521_N529del0

c.1561_1587del27

1 paper

NM_002660.3

p.Q527*

c.1579C>T

2 papers

NM_002660.3

p.Y509H

c.1525T>C

3 papers

NM_002660.3

p.H508Y

c.1522C>T

1 paper

NM_002660.3

p.P507L

c.1520C>T

1 paper

NM_002660.3

p.E534K

c.1600G>A

1 paper

NM_002660.3

p.P535fs

c.1603_1604fs

1 paper

NM_002660.3

p.P500S

c.1498C>T

1 paper

NM_002660.3

p.Y496S

c.1487A>C

1 paper

NM_002660.3

p.S541N

c.1622G>A