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.G165G

c.495A>T

Surrounding Variants

2 papers

NM_000314.8

p.G165G

c.495A>C

1 paper

NM_000314.8

p.V166_R173delFs

c.497_518del22

55 papers

NM_000314.8

p.G165E

c.494G>A

8 papers

NM_000314.8

p.V166I

c.496G>A

4 papers

NM_000314.8

p.V166L

c.496G>C

9 papers

NM_000314.8

p.V166fs

c.496_497fs

2 papers

NM_000314.8

p.V166insFs

c.497_498insT

22 papers

NM_000314.8

p.G165V

c.494G>T

3 papers

NM_000314.8

p.V166L

c.496G>T

1 paper

NM_000314.8

p.V166_T167delFs

c.496_499del4

1 paper

NM_000314.8

p.V166delins

c.496_497delinsCA

12 papers

NM_000314.8

p.V166fs

c.496_497fs