Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.R512W

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.R512W
c.1534C>T
Surrounding Variants
1 paper
NM_001144758.3
p.G513fs
c.1537_1538fs
1 paper
NM_001144758.3
p.G513D
c.1538G>A
1 paper
NM_001144758.3
p.R514C
c.1540C>T
1 paper
NM_001144758.3
p.D504N
c.1510G>A
1 paper
NM_001144758.3
p.L527fs
c.1579_1580fs
1 paper
NM_001144758.3
p.R491W
c.1471C>T
1 paper
NM_001144758.3
p.T477I
c.1430C>T
1 paper
NM_001144758.3
p.R475Q
c.1424G>A
1 paper
NM_001144758.3
p.S470S
c.1410C>T
1 paper
NM_001144758.3
p.C553Y
c.1658G>A
1 paper
NM_001144758.3
p.Q554*
c.1660C>T
1 paper
NM_001144758.3
p.R467Q
c.1400G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."