Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.E88K

PHLDB1

96 papers

Pfam Domains

FHAaa 64–125UCSCFHA domain
PHaa 1257–1370UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology like domain family B member 1

HGNC Alias Symbols

FLJ00141; LL5a; KIAA0638

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144758.3
p.E88K
c.262G>A
Surrounding Variants
1 paper
NM_001144758.3
p.A81G
c.242C>G
1 paper
NM_001144758.3
p.A70T
c.208G>A
1 paper
NM_001144758.3
p.L56P
c.167T>C
1 paper
NM_001144758.3
p.R49*
c.145C>T
1 paper
NM_001144758.3
p.S44S
c.132C>T
1 paper
NM_001144758.3
p.S44I
c.131G>T
1 paper
NM_001144758.3
p.P40S
c.118C>T
1 paper
NM_001144758.3
p.K39N
c.117A>T
1 paper
NM_001144758.3
p.K31R
c.92A>G
1 paper
NM_001144758.3
p.T17S
c.49A>T
1 paper
NM_001144758.3
p.G119Splc
c.356-2447C>T
1 paper
NM_001144758.3
p.G153E
c.458G>A
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