Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB2
Variant:p.C349R

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
3 papers
NM_001134438.2
p.C349R
c.1045T>C
Surrounding Variants
2 papers
NM_001134438.2
p.S348_A350del0
c.1043_1048del6
1 paper
NM_001134438.2
p.S347T
c.1039T>A
2 papers
NM_001134438.2
p.S348_A350del3
c.1042_1049del9
1 paper
NM_001134438.2
p.K340N
c.1020G>C
1 paper
NM_001134438.2
p.K340N
c.1020G>T
1 paper
NM_001134438.2
p.R339P
c.1016G>C
1 paper
NM_001134438.2
p.R375_F377del3
c.1123_1130del9
1 paper
NM_001134438.2
p.G321D
c.962G>A
1 paper
NM_001134438.2
p.N382S
c.1145A>G
1 paper
NM_001134438.2
p.K315fs
c.943_944fs
1 paper
NM_001134438.2
p.K315delFs
c.943delA
1 paper
NM_001134438.2
p.A311_L312delFs
c.931_935del5
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