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.C296G

c.886T>G

Surrounding Variants

4 papers

NM_000314.8

p.C296R

c.886T>C

7 papers

NM_000314.8

p.C296fs

c.886_887fs

1 paper

NM_000314.8

p.C296delFs

c.887delG

2 papers

NM_000314.8

p.C296fs

c.886_887fs

1 paper

NM_000314.8

p.C296_D297delFs

c.888_889delTG

1 paper

NM_000314.8

p.C296_S305del10

c.886_914del30

1 paper

NM_000314.8

p.C296delFs

c.888delT

7 papers

NM_000314.8

p.C296*

c.888T>A

1 paper

NM_000314.8

p.C296C

c.888T>C

2 papers

NM_000314.8

p.L295_C296insFs

c.885_886insA

1 paper

NM_000314.8

p.C296_I300insFs

c.887_899dup13

1 paper

NM_000314.8

p.L295_I300Fs

c.884_900delinsGFs