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

1 paper

NM_000314.8

p.L139_K147delFs

c.416_440del25

Surrounding Variants

3 papers

NM_000314.8

p.L139I

c.415T>A

5 papers

NM_000314.8

p.L139V

c.415T>G

3 papers

NM_000314.8

p.L139fs

c.415_416fs

1 paper

NM_000314.8

p.L139fs

c.415_416fs

37 papers

NM_000314.8

p.L139*

c.416T>A

6 papers

NM_000314.8

p.Y138*

c.414T>A

36 papers

NM_000314.8

p.L139*

c.416T>G

8 papers

NM_000314.8

p.Y138*

c.414T>G

4 papers

NM_000314.8

p.L139F

c.417A>C

2 papers

NM_000314.8

p.Y138S

c.413A>C

18 papers

NM_000314.8

p.Y138C

c.413A>G

6 papers

NM_000314.8

p.Y138F

c.413A>T