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

6 papers

NM_000314.8

p.A328fs

c.982_983fs

Surrounding Variants

1 paper

NM_000314.8

p.A328T

c.982G>A

1 paper

NM_000314.8

p.N329_K332insFs

c.987_996dup10

5 papers

NM_000314.8

p.A328fs

c.982_983fs

1 paper

NM_000314.8

p.A328delFs

c.982delG

2 papers

NM_000314.8

p.A328E

c.983C>A

4 papers

NM_000314.8

p.A328V

c.983C>T

2 papers

NM_000314.8

p.N329delFs

c.986delA

1 paper

NM_000314.8

p.N329delFs

c.985_986delAA

17 papers

NM_000314.8

p.N329_K330delFs

c.987_990del4

1 paper

NM_000314.8

p.K327T

c.980A>C

1 paper

NM_000314.8

p.K327R

c.980A>G

1 paper

NM_000314.8

p.A328_N329Fs

c.984_987delinsTAFs