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.M239I

c.717G>T

Surrounding Variants

1 paper

NM_000314.8

p.M239I

c.717G>A

1 paper

NM_000314.8

p.M239I

c.717G>C

1 paper

NM_000314.8

p.Y240insFs

c.718_719ins4

1 paper

NM_000314.8

p.M239K

c.716T>A

5 papers

NM_000314.8

p.M239T

c.716T>C

8 papers

NM_000314.8

p.M239R

c.716T>G

2 papers

NM_000314.8

p.Y240fs

c.718_719fs

1 paper

NM_000314.8

p.Y240fs

c.718_719fs

1 paper

NM_000314.8

p.M239delFs

c.717delG

2 papers

NM_000314.8

p.M239fs

c.715_716fs

1 paper

NM_000314.8

p.M239L

c.715A>C

4 papers

NM_000314.8

p.M239V

c.715A>G