Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHN1
Variant:p.Y460*

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
1 paper
NM_032129.3
p.Y460*
c.1380C>G
Surrounding Variants
1 paper
NM_032129.3
p.Y460*
c.1380C>A
1 paper
NM_032129.3
p.Y460_T461insFs
c.1380_1381ins32
1 paper
NM_032129.3
p.P463fs
c.1387_1388fs
1 paper
NM_032129.3
p.P463L
c.1388C>T
1 paper
NM_032129.3
p.T465N
c.1394C>A
1 paper
NM_032129.3
p.E449K
c.1345G>A
2 papers
NM_032129.3
p.S448L
c.1343C>T
1 paper
NM_032129.3
p.R474W
c.1420C>T
1 paper
NM_032129.3
p.E478K
c.1432G>A
1 paper
NM_032129.3
p.P441S
c.1321C>T
1 paper
NM_032129.3
p.A482T
c.1444G>A
7 papers
NM_032129.3
p.R487P
c.1460G>C
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