Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.L714P

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
3 papers
NM_001144758.3
p.L714P
c.2141T>C
Surrounding Variants
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.Q722E
c.2164C>G
1 paper
NM_001144758.3
p.S706R
c.2116A>C
1 paper
NM_001144758.3
p.R733C
c.2197C>T
1 paper
NM_001144758.3
p.R733H
c.2198G>A
1 paper
NM_001144758.3
p.K688Q
c.2062A>C
1 paper
NM_001144758.3
p.K688del1
c.2062_2063delAAG
1 paper
NM_001144758.3
p.R674C
c.2020C>T
1 paper
NM_001144758.3
p.G659E
c.1976G>A
1 paper
NM_001144758.3
p.R602Q
c.1805G>A
1 paper
NM_001144758.3
p.R600Q
c.1799G>A
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