Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.S170N

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
34 papers
NM_000314.8
p.S170N
c.509G>A
Surrounding Variants
5 papers
NM_000314.8
p.S170T
c.509G>C
25 papers
NM_000314.8
p.S170I
c.509G>T
6 papers
NM_000314.8
p.S170fs
c.508_509fs
2 papers
NM_000314.8
p.S170_Q171insT
c.508_512ins3
45 papers
NM_000314.8
p.S170R
c.508A>C
8 papers
NM_000314.8
p.S170G
c.508A>G
2 papers
NM_000314.8
p.S170C
c.508A>T
6 papers
NM_000314.8
p.S170fs
c.508_509fs
45 papers
NM_000314.8
p.S170R
c.510T>A
46 papers
NM_000314.8
p.S170R
c.510T>G
1 paper
NM_000314.8
p.Q171ins1
c.512_513insACA
12 papers
NM_000314.8
p.Q171K
c.511C>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."