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

8 papers

NM_000314.8

p.A120E

c.359C>A

Surrounding Variants

1 paper

NM_000314.8

p.A120G

c.359C>G

5 papers

NM_000314.8

p.A120V

c.359C>T

2 papers

NM_000314.8

p.A120A

c.360A>C

10 papers

NM_000314.8

p.A120T

c.358G>A

3 papers

NM_000314.8

p.A120P

c.358G>C

1 paper

NM_000314.8

p.A120insFs

c.359dupC

3 papers

NM_000314.8

p.A120fs

c.358_359fs

1 paper

NM_000314.8

p.A120fs

c.358_359fs

2 papers

NM_000314.8

p.A120_A121delFs

c.359_362del4

13 papers

NM_000314.8

p.A121T

c.361G>A

17 papers

NM_000314.8

p.A121P

c.361G>C

1 paper

NM_000314.8

p.A121fs

c.361_362fs