Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.C553Y

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.C553Y
c.1658G>A
Surrounding Variants
1 paper
NM_001144758.3
p.Q554*
c.1660C>T
1 paper
NM_001144758.3
p.S564R
c.1690A>C
1 paper
NM_001144758.3
p.S564R
c.1692C>A
1 paper
NM_001144758.3
p.S564R
c.1692C>G
1 paper
NM_001144758.3
p.G565R
c.1693G>A
1 paper
NM_001144758.3
p.G565R
c.1693G>C
1 paper
NM_001144758.3
p.R575W
c.1723C>T
1 paper
NM_001144758.3
p.N577delFs
c.1730delA
1 paper
NM_001144758.3
p.L527fs
c.1579_1580fs
1 paper
NM_001144758.3
p.R514C
c.1540C>T
1 paper
NM_001144758.3
p.G513D
c.1538G>A
1 paper
NM_001144758.3
p.G513fs
c.1537_1538fs
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