Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.E348D

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.E348D
c.1044G>T
Surrounding Variants
1 paper
NM_001144758.3
p.E348D
c.1044G>C
1 paper
NM_001144758.3
p.R351W
c.1051C>T
1 paper
NM_001144758.3
p.R345S
c.1035A>T
1 paper
NM_001144758.3
p.R345G
c.1033A>G
1 paper
NM_001144758.3
p.E342*
c.1024G>T
1 paper
NM_001144758.3
p.I361I
c.1083C>T
1 paper
NM_001144758.3
p.D333N
c.997G>A
1 paper
NM_001144758.3
p.Y366H
c.1096T>C
1 paper
NM_001144758.3
p.P379S
c.1135C>T
1 paper
NM_001144758.3
p.N393D
c.1177A>G
1 paper
NM_001144758.3
p.P298L
c.893C>T
1 paper
NM_001144758.3
p.R414Q
c.1241G>A
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