Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB2
Variant:p.M946I

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.M946I
c.2838G>C
Surrounding Variants
1 paper
NM_001134438.2
p.M946I
c.2838G>A
1 paper
NM_001134438.2
p.M946I
c.2838G>T
1 paper
NM_001134438.2
p.A947S
c.2839G>T
1 paper
NM_001134438.2
p.A945V
c.2834C>T
1 paper
NM_001134438.2
p.P941S
c.2821C>T
1 paper
NM_001134438.2
p.G958Splc
c.2872+4C>T
1 paper
NM_001134438.2
p.Q931_C935del5
c.2791_2804del15
1 paper
NM_001134438.2
p.K924_A925Splc
c.2772+1G>A
1 paper
NM_001134438.2
p.M917I
c.2751G>A
1 paper
NM_001134438.2
p.M917I
c.2751G>C
1 paper
NM_001134438.2
p.M917I
c.2751G>T
1 paper
NM_001134438.2
p.R880K
c.2639G>A
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