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.F238C

c.713T>G

Surrounding Variants

4 papers

NM_000314.8

p.F238L

c.714C>A

3 papers

NM_000314.8

p.F238L

c.714C>G

4 papers

NM_000314.8

p.F238L

c.712T>C

5 papers

NM_000314.8

p.F238fs

c.712_713fs

4 papers

NM_000314.8

p.F238fs

c.712_713fs

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

1 paper

NM_000314.8

p.M239L

c.715A>T

2 papers

NM_000314.8

p.M239fs

c.715_716fs

1 paper

NM_000314.8

p.K237_F238insFs

c.711_712insAA

1 paper

NM_000314.8

p.F238insFs

c.713dupT