Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.L798insFs

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.L798insFs
c.2392dupC
Surrounding Variants
1 paper
NM_001144758.3
p.L798fs
c.2392_2393fs
1 paper
NM_001144758.3
p.R815P
c.2444G>C
1 paper
NM_001144758.3
p.R733H
c.2198G>A
1 paper
NM_001144758.3
p.R733C
c.2197C>T
1 paper
NM_001144758.3
p.Q722E
c.2164C>G
3 papers
NM_001144758.3
p.L714P
c.2141T>C
1 paper
NM_001144758.3
p.S706R
c.2118C>A
1 paper
NM_001144758.3
p.S706R
c.2118C>G
1 paper
NM_001144758.3
p.S706R
c.2116A>C
2 papers
NM_001144758.3
p.E865E
c.2595A>G
2 papers
NM_001144758.3
p.R868H
c.2603G>A
1 paper
NM_001144758.3
p.K882_E883Splc
c.2646+2T>C
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