Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.R1050Q

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.R1050Q
c.3149G>A
Surrounding Variants
1 paper
NM_001144758.3
p.R1051*
c.3151C>T
1 paper
NM_001144758.3
p.A1059V
c.3176C>T
1 paper
NM_001144758.3
p.A1061T
c.3181G>A
1 paper
NM_001144758.3
p.A1061S
c.3181G>T
1 paper
NM_001144758.3
p.Q1064Q
c.3192G>A
1 paper
NM_001144758.3
p.S1081L
c.3242C>T
1 paper
NM_001144758.3
p.A1097V
c.3290C>T
1 paper
NM_001144758.3
p.A1108T
c.3322G>A
1 paper
NM_001144758.3
p.T1111M
c.3332C>T
1 paper
NM_001144758.3
p.T1111T
c.3333G>A
1 paper
NM_001144758.3
p.I1124V
c.3370A>G
1 paper
NM_001144758.3
p.G1127G
c.3381G>A
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