Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHB1

PLEKHB1

23 papers

Pfam Domains

PHaa 22–128UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin homology domain containing B1

HGNC Previous Symbol

PHRET1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
1 paper
NM_021200.3
p.P9R
c.26C>G
1 paper
NM_021200.3
p.G26S
c.76G>A
1 paper
NM_021200.3
p.A59T
c.175G>A
1 paper
NM_021200.3
p.D64N
c.190G>A
1 paper
NM_021200.3
p.R65delFs
c.194_195delGT
1 paper
NM_021200.3
p.R65H
c.194G>A
1 paper
NM_021200.3
p.R73H
c.218G>A
1 paper
NM_021200.3
p.G78S
c.232G>A
1 paper
NM_021200.3
p.P87S
c.259C>T
1 paper
NM_021200.3
p.V98V
c.294G>A
1 paper
NM_021200.3
p.A131A
c.393C>G
1 paper
NM_021200.3
p.R140_S141delFs
c.419_422del4
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