Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.L295V

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
6 papers
NM_000314.8
p.L295V
c.883C>G
Surrounding Variants
2 papers
NM_000314.8
p.L295fs
c.883_884fs
4 papers
NM_000314.8
p.L295insFs
c.884dupT
1 paper
NM_000314.8
p.L295L
c.883C>T
2 papers
NM_000314.8
p.L295delFs
c.884delT
3 papers
NM_000314.8
p.L295_C296delFs
c.885_886delAT
2 papers
NM_000314.8
p.L295fs
c.883_884fs
19 papers
NM_000314.8
p.S294R
c.882T>A
21 papers
NM_000314.8
p.S294R
c.882T>G
2 papers
NM_000314.8
p.L295_C296insFs
c.885_886insA
1 paper
NM_000314.8
p.C296_I300insFs
c.887_899dup13
1 paper
NM_000314.8
p.L295_I300Fs
c.884_900delinsGFs
1 paper
NM_000314.8
p.C296_D297delFs
c.888_889delTG
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