Varaico: Literature-Extracted Genetic Variants

Gene:PLCL1
Variant:p.D547N

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.D547N
c.1639G>A
Surrounding Variants
1 paper
NM_006226.4
p.P548S
c.1642C>T
1 paper
NM_006226.4
p.P548L
c.1643C>T
1 paper
NM_006226.4
p.K543N
c.1629G>C
1 paper
NM_006226.4
p.K543N
c.1629G>T
1 paper
NM_006226.4
p.K543R
c.1628A>G
1 paper
NM_006226.4
p.G541A
c.1622G>C
1 paper
NM_006226.4
p.K532R
c.1595A>G
2 papers
NM_006226.4
p.R566Q
c.1697G>A
1 paper
NM_006226.4
p.I579M
c.1737C>G
1 paper
NM_006226.4
p.L581F
c.1741C>T
1 paper
NM_006226.4
p.V510A
c.1529T>C
1 paper
NM_006226.4
p.Q596Q
c.1788A>G
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