Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHN1
Variant:p.R487P

PLEKHN1

68 papers

Gene Aliases

HGNC Name

pleckstrin homology domain containing N1

HGNC Alias Symbol

DKFZP434H2010

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_032129.3
p.R487P
c.1460G>C
Surrounding Variants
1 paper
NM_032129.3
p.T490M
c.1469C>T
1 paper
NM_032129.3
p.A482T
c.1444G>A
6 papers
NM_032129.3
p.S511P
c.1531T>C
2 papers
NM_032129.3
p.S512S
c.1536C>T
1 paper
NM_032129.3
p.K522K
c.1566G>A
3 papers
NM_032129.3
p.A531T
c.1591G>A
1 paper
NM_032129.3
p.R535Q
c.1604G>A
1 paper
NM_032129.3
p.D547D
c.1641C>T
1 paper
NM_032129.3
p.E478K
c.1432G>A
1 paper
NM_032129.3
p.R474W
c.1420C>T
1 paper
NM_032129.3
p.T465N
c.1394C>A
1 paper
NM_032129.3
p.P463L
c.1388C>T
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