Varaico: Literature-Extracted Genetic Variants

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

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

3 papers

NM_000314.8

p.V290A

c.869T>C

Surrounding Variants

2 papers

NM_000314.8

p.V290E

c.869T>A

3 papers

NM_000314.8

p.V290delFs

c.870delA

1 paper

NM_000314.8

p.E291_G293del0

c.871_879del9

1 paper

NM_000314.8

p.N292_E299del8

c.874_896del24

1 paper

NM_000314.8

p.E291insFs

c.871_872insG

1 paper

NM_000314.8

p.V290V

c.870A>G

2 papers

NM_000314.8

p.V290L

c.868G>C

1 paper

NM_000314.8

p.V290insFs

c.868_869insA

23 papers

NM_000314.8

p.V290fs

c.868_869fs

2 papers

NM_000314.8

p.V290L

c.868G>T

1 paper

NM_000314.8

p.V290delFs

c.869delT

11 papers

NM_000314.8

p.V290fs

c.868_869fs