Varaico: Literature-Extracted Genetic Variants

Gene:PLCL1
Variant:p.Q288R

PLCL1

126 papers

Pfam Domains

PH_12aa 107–223UCSCPleckstrin homology domain
EF-hand_likeaa 307–391UCSCPhosphoinositide-specific phospholipase C, efhand-like
PI-PLC-Xaa 400–543UCSCPhosphatidylinositol-specific phospholipase C, X domain
PI-PLC-Yaa 585–699UCSCPhosphatidylinositol-specific phospholipase C, Y domain
C2aa 721–828UCSCC2 domain

Gene Aliases

HGNC Name

phospholipase C like 1 (inactive)

HGNC Alias Symbols

PLC-L; PRIP; PPP1R127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006226.4
p.Q288R
c.863A>G
Surrounding Variants
1 paper
NM_006226.4
p.K279N
c.837G>C
1 paper
NM_006226.4
p.K279N
c.837G>T
1 paper
NM_006226.4
p.E305G
c.914A>G
1 paper
NM_006226.4
p.Q270R
c.809A>G
1 paper
NM_006226.4
p.I268T
c.803T>C
1 paper
NM_006226.4
p.C311S
c.932G>C
1 paper
NM_006226.4
p.V321_Q322delFs
c.962_966del5
1 paper
NM_006226.4
p.S324Y
c.971C>A
1 paper
NM_006226.4
p.D331Y
c.991G>T
1 paper
NM_006226.4
p.A332S
c.994G>T
1 paper
NM_006226.4
p.M232T
c.695T>C
1 paper
NM_006226.4
p.F231S
c.692T>C
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