Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB2
Variant:p.R1056_E1057Splc

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
2 papers
NM_001134438.2
p.R1056_E1057Splc
c.3168+1G>A
Surrounding Variants
2 papers
NM_001134438.2
p.K1043_E1048del6
c.3127_3143del18
1 paper
NM_001134438.2
p.E1068K
c.3202G>A
1 paper
NM_001134438.2
p.I1076I
c.3228C>T
1 paper
NM_001134438.2
p.R1080Q
c.3239G>A
1 paper
NM_001134438.2
p.I1092K
c.3275T>A
1 paper
NM_001134438.2
p.P1114L
c.3341C>T
1 paper
NM_001134438.2
p.F1120F
c.3360T>C
1 paper
NM_001134438.2
p.V1139V
c.3417A>G
1 paper
NM_001134438.2
p.G1148E
c.3443G>A
1 paper
NM_001134438.2
p.L1150L
c.3450C>T
1 paper
NM_001134438.2
p.R1169W
c.3505C>T
1 paper
NM_001134438.2
p.D1179Splc
c.3535+88G>A
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