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

14 papers

NM_000314.8

p.F154L

c.460T>C

Surrounding Variants

3 papers

NM_000314.8

p.F154I

c.460T>A

5 papers

NM_000314.8

p.F154V

c.460T>G

4 papers

NM_000314.8

p.F154fs

c.460_461fs

1 paper

NM_000314.8

p.F154_Y155insGG

c.460_464ins6

1 paper

NM_000314.8

p.F154_Y155ins5

c.460_464ins15

3 papers

NM_000314.8

p.F154fs

c.460_461fs

1 paper

NM_000314.8

p.F154_Y155delFs

c.462_463delCT

3 papers

NM_000314.8

p.D153E

c.459T>A

5 papers

NM_000314.8

p.F154S

c.461T>C

5 papers

NM_000314.8

p.F154C

c.461T>G

2 papers

NM_000314.8

p.D153E

c.459T>G

1 paper

NM_000314.8

p.F154delFs

c.462delC