Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB2
Variant:p.D12Y

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.D12Y
c.34G>T
Surrounding Variants
1 paper
NM_001134438.2
p.H4D
c.10C>G
2 papers
NM_001134438.2
p.S46I
c.137G>T
1 paper
NM_001134438.2
p.S73A
c.217T>G
1 paper
NM_001134438.2
p.S82N
c.245G>A
1 paper
NM_001134438.2
p.I88M
c.264C>G
2 papers
NM_001134438.2
p.S116_S117del1
c.348_350delCTC
1 paper
NM_001134438.2
p.G124R
c.370G>A
1 paper
NM_001134438.2
p.G124R
c.370G>C
1 paper
NM_001134438.2
p.R125K
c.374G>A
1 paper
NM_001134438.2
p.R125_A126del1
c.375_377delAGC
1 paper
NM_001134438.2
p.G133C
c.397G>T
1 paper
NM_001134438.2
p.G197E
c.590G>A
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