Varaico: Literature-Extracted Genetic Variants

Gene:PHLDB1
Variant:p.G986D

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.G986D
c.2957G>A
Surrounding Variants
1 paper
NM_001144758.3
p.L981fs
c.2941_2942fs
1 paper
NM_001144758.3
p.A997fs
c.2989_2990fs
1 paper
NM_001144758.3
p.L973F
c.2917C>T
1 paper
NM_001144758.3
p.T970A
c.2908A>G
1 paper
NM_001144758.3
p.G1014delFs
c.3040delG
1 paper
NM_001144758.3
p.G1014C
c.3040G>T
1 paper
NM_001144758.3
p.S1017R
c.3049A>C
1 paper
NM_001144758.3
p.S1017R
c.3051C>A
1 paper
NM_001144758.3
p.S1017R
c.3051C>G
2 papers
NM_001144758.3
p.R1020C
c.3058C>T
1 paper
NM_001144758.3
p.R1033H
c.3098G>A
1 paper
NM_001144758.3
p.Q959_V960Splc
c.2877+21C>T
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