Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB2
Variant:p.K315delFs

PHLDB2

74 papers

Pfam Domains

PHaa 1144–1246UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology like domain family B member 2

HGNC Alias Symbols

LL5beta; FLJ21791; LL5b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134438.2
p.K315delFs
c.943delA
Surrounding Variants
1 paper
NM_001134438.2
p.K315fs
c.943_944fs
1 paper
NM_001134438.2
p.A311_L312delFs
c.931_935del5
1 paper
NM_001134438.2
p.G310E
c.929G>A
1 paper
NM_001134438.2
p.G321D
c.962G>A
1 paper
NM_001134438.2
p.D299E
c.897C>A
1 paper
NM_001134438.2
p.D299E
c.897C>G
1 paper
NM_001134438.2
p.V295I
c.883G>A
1 paper
NM_001134438.2
p.P292fs
c.874_875fs
1 paper
NM_001134438.2
p.L291Fs
c.872_873delinsTAAFs
1 paper
NM_001134438.2
p.L291delins
c.872_873delinsTA
1 paper
NM_001134438.2
p.R339P
c.1016G>C
1 paper
NM_001134438.2
p.K289R
c.866A>G
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