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.S207R

c.621T>G

Surrounding Variants

2 papers

NM_000314.8

p.S207R

c.621T>A

1 paper

NM_000314.8

p.G208delFs

c.623delG

1 paper

NM_000314.8

p.G208_G209del2

c.622_626del6

1 paper

NM_000314.8

p.S207N

c.620G>A

1 paper

NM_000314.8

p.G208_G209insGT

c.622_626ins6

1 paper

NM_000314.8

p.G208insFs

c.622_623insT

1 paper

NM_000314.8

p.S207I

c.620G>T

1 paper

NM_000314.8

p.G208C

c.622G>T

2 papers

NM_000314.8

p.G208fs

c.622_623fs

1 paper

NM_000314.8

p.G208_T210del3

c.622_629del9

1 paper

NM_000314.8

p.S207fs

c.619_620fs

1 paper

NM_000314.8

p.S207_G208insGT

c.619_623ins6