Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.F69Y

PLEK

740 papers

Pfam Domains

PHaa 5–101UCSCPH domain
DEPaa 139–219UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
PHaa 245–347UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin

HGNC Alias Symbols

P47; PLEK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002664.3
p.F69Y
c.206T>A
Surrounding Variants
1 paper
NM_002664.3
p.T72insFs
c.215dupC
1 paper
NM_002664.3
p.T72S
c.214A>T
2 papers
NM_002664.3
p.M66_F67Splc
c.199-1G>C
1 paper
NM_002664.3
p.M66_F67Splc
c.199-1G>T
1 paper
NM_002664.3
p.T72S
c.215C>G
1 paper
NM_002664.3
p.T72T
c.216T>A
2 papers
NM_002664.3
p.T73M
c.218C>T
1 paper
NM_002664.3
p.K75_Q76del2
c.223_227del6
2 papers
NM_002664.3
p.Q77*
c.229C>T
1 paper
NM_002664.3
p.Q77L
c.230A>T
1 paper
NM_002664.3
p.H79L
c.236A>T
1 paper
NM_002664.3
p.F81_Q82insFs
c.243_244insT
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