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

2 papers

NM_000314.8

p.D326E

c.978C>G

Surrounding Variants

2 papers

NM_000314.8

p.D326E

c.978C>A

1 paper

NM_000314.8

p.K327insFs

c.981dupA

9 papers

NM_000314.8

p.K327delFs

c.981delA

1 paper

NM_000314.8

p.D326insFs

c.977_978insC

2 papers

NM_000314.8

p.K327fs

c.979_980fs

1 paper

NM_000314.8

p.K327_A328insC

c.979_983ins3

12 papers

NM_000314.8

p.D326G

c.977A>G

1 paper

NM_000314.8

p.K327E

c.979A>G

3 papers

NM_000314.8

p.D326V

c.977A>T

1 paper

NM_000314.8

p.K327fs

c.979_980fs

1 paper

NM_000314.8

p.A328_N329delFs

c.982_986del5

1 paper

NM_000314.8

p.K327T

c.980A>C