Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.I248fs

STK11

2,183 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase that regulates cell polarity and energy metabolism and functions as a tumor suppressor. Mutations in this gene have been associated with t...

Pfam Domains

Pkinaseaa 49–309UCSCProtein kinase domain

Gene Aliases

HGNC Name

serine/threonine kinase 11

HGNC Alias Symbols

PJS; LKB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000455.5
p.I248fs
c.742_743fs
Surrounding Variants
1 paper
NM_000455.5
p.I248_G251delFs
c.743_752del10
1 paper
NM_000455.5
p.I248_G251del4
c.742_752del12
1 paper
NM_000455.5
p.N247insFs
c.741dupC
1 paper
NM_000455.5
p.N247I
c.740A>T
1 paper
NM_000455.5
p.T249_T250del0
c.745_750del6
1 paper
NM_000455.5
p.T249fs
c.745_746fs
1 paper
NM_000455.5
p.T249P
c.745A>C
2 papers
NM_000455.5
p.T249A
c.745A>G
1 paper
NM_000455.5
p.T249fs
c.745_746fs
1 paper
NM_000455.5
p.T249_T250Fs
c.745_749delinsGFs
1 paper
NM_000455.5
p.T249_T250delFs
c.746_750del5
7 papers
NM_000455.5
p.Y246*
c.738C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."