Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K62N

PTEN

6,035 papers

RefSeq Summary

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphat...

Pfam Domains

Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
PTEN_C2aa 188–349UCSCC2 domain of PTEN tumour-suppressor protein
PTEN_C2aa 188–349UCSCC2 domain of PTEN tumour-suppressor protein

Gene Aliases

HGNC Name

phosphatase and tensin homolog

HGNC Previous Symbols

BZS; MHAM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000314.8
p.K62N
c.186A>T
Surrounding Variants
1 paper
NM_000314.8
p.K62N
c.186A>C
1 paper
NM_000314.8
p.N63_K66insFs
c.189_196dup8
10 papers
NM_000314.8
p.N63fs
c.187_188fs
5 papers
NM_000314.8
p.K62T
c.185A>C
2 papers
NM_000314.8
p.N63H
c.187A>C
15 papers
NM_000314.8
p.K62R
c.185A>G
2 papers
NM_000314.8
p.N63D
c.187A>G
4 papers
NM_000314.8
p.K62I
c.185A>T
4 papers
NM_000314.8
p.N63Y
c.187A>T
7 papers
NM_000314.8
p.N63fs
c.187_188fs
2 papers
NM_000314.8
p.K62fs
c.184_185fs
2 papers
NM_000314.8
p.K62Q
c.184A>C
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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."