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

3 papers

NM_000314.8

p.K289insFs

c.866_867insCT

Surrounding Variants

17 papers

NM_000314.8

p.K289R

c.866A>G

2 papers

NM_000314.8

p.K289insFs

c.865_866insCT

3 papers

NM_000314.8

p.K289fs

c.865_866fs

1 paper

NM_000314.8

p.K289_V290insFs

c.867_868insT

1 paper

NM_000314.8

p.K289Q

c.865A>C

1 paper

NM_000314.8

p.K289N

c.867A>C

74 papers

NM_000314.8

p.K289E

c.865A>G

3 papers

NM_000314.8

p.K289*

c.865A>T

1 paper

NM_000314.8

p.K289N

c.867A>T

2 papers

NM_000314.8

p.K289fs

c.865_866fs

1 paper

NM_000314.8

p.V290delFs

c.868delG

1 paper

NM_000314.8

p.E288D

c.864A>C