Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.G119Splc

PHLDB1

96 papers

Pfam Domains

FHAaa 64–125UCSCFHA domain
PHaa 1257–1370UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology like domain family B member 1

HGNC Alias Symbols

FLJ00141; LL5a; KIAA0638

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144758.3
p.G119Splc
c.356-2447C>T
Surrounding Variants
1 paper
NM_001144758.3
p.G153E
c.458G>A
1 paper
NM_001144758.3
p.G169G
c.507G>T
1 paper
NM_001144758.3
p.T172fs
c.514_515fs
1 paper
NM_001144758.3
p.P221S
c.661C>T
1 paper
NM_001144758.3
p.P221Q
c.662C>A
1 paper
NM_001144758.3
p.A226D
c.677C>A
1 paper
NM_001144758.3
p.R230delFs
c.688delC
1 paper
NM_001144758.3
p.S238S
c.714C>T
1 paper
NM_001144758.3
p.S273C
c.817A>T
1 paper
NM_001144758.3
p.E276E
c.828G>A
1 paper
NM_001144758.3
p.P298L
c.893C>T
1 paper
NM_001144758.3
p.D333N
c.997G>A
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