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

13 papers

NM_000314.8

p.A121T

c.361G>A

Surrounding Variants

17 papers

NM_000314.8

p.A121P

c.361G>C

1 paper

NM_000314.8

p.A121fs

c.361_362fs

2 papers

NM_000314.8

p.A121S

c.361G>T

2 papers

NM_000314.8

p.A120A

c.360A>C

12 papers

NM_000314.8

p.A121E

c.362C>A

7 papers

NM_000314.8

p.A121G

c.362C>G

4 papers

NM_000314.8

p.A121V

c.362C>T

1 paper

NM_000314.8

p.I122_A126delFs

c.364_377del14

8 papers

NM_000314.8

p.A120E

c.359C>A

1 paper

NM_000314.8

p.A120G

c.359C>G

5 papers

NM_000314.8

p.A120V

c.359C>T

3 papers

NM_000314.8

p.I122fs

c.364_365fs