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.S305insFs

c.913dupA

Surrounding Variants

1 paper

NM_000314.8

p.C304C

c.912C>T

1 paper

NM_000314.8

p.S305delFs

c.913delA

3 papers

NM_000314.8

p.S305fs

c.913_914fs

2 papers

NM_000314.8

p.S305insFs

c.913_914insT

1 paper

NM_000314.8

p.S305R

c.913A>C

2 papers

NM_000314.8

p.S305G

c.913A>G

2 papers

NM_000314.8

p.S305C

c.913A>T

1 paper

NM_000314.8

p.C304S

c.911G>C

1 paper

NM_000314.8

p.C304F

c.911G>T

10 papers

NM_000314.8

p.S305N

c.914G>A

1 paper

NM_000314.8

p.S305T

c.914G>C

1 paper

NM_000314.8

p.S305insFs

c.914_915insTA