Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.R868H

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
2 papers
NM_001144758.3
p.R868H
c.2603G>A
Surrounding Variants
2 papers
NM_001144758.3
p.E865E
c.2595A>G
1 paper
NM_001144758.3
p.K882_E883Splc
c.2646+2T>C
1 paper
NM_001144758.3
p.L897_T898delFs
c.2690_2693del4
1 paper
NM_001144758.3
p.L897fs
c.2689_2690fs
1 paper
NM_001144758.3
p.G900S
c.2698G>A
1 paper
NM_001144758.3
p.E912_M913Splc
c.2737-224C>T
1 paper
NM_001144758.3
p.G935R
c.2803G>A
1 paper
NM_001144758.3
p.G935R
c.2803G>C
1 paper
NM_001144758.3
p.P948L
c.2843C>T
1 paper
NM_001144758.3
p.Q959_V960Splc
c.2877+21C>T
1 paper
NM_001144758.3
p.R815P
c.2444G>C
1 paper
NM_001144758.3
p.L798fs
c.2392_2393fs
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