Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB2
Variant:p.E264D

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.E264D
c.792G>C
Surrounding Variants
1 paper
NM_001134438.2
p.E264D
c.792G>T
1 paper
NM_001134438.2
p.Y252Y
c.756C>T
1 paper
NM_001134438.2
p.K289R
c.866A>G
1 paper
NM_001134438.2
p.L291delins
c.872_873delinsTA
1 paper
NM_001134438.2
p.L291Fs
c.872_873delinsTAAFs
1 paper
NM_001134438.2
p.P292fs
c.874_875fs
1 paper
NM_001134438.2
p.V295I
c.883G>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.K227N
c.681G>C
1 paper
NM_001134438.2
p.K227N
c.681G>T
1 paper
NM_001134438.2
p.K222E
c.664A>G
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