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.F37ins2

c.110_111ins6

Surrounding Variants

1 paper

NM_000314.8

p.F37I

c.109T>A

1 paper

NM_000314.8

p.F37L

c.109T>C

1 paper

NM_000314.8

p.F37V

c.109T>G

1 paper

NM_000314.8

p.F37fs

c.109_110fs

8 papers

NM_000314.8

p.F37insFs

c.109_110ins5

1 paper

NM_000314.8

p.F37_D51del0

c.110_151del42

1 paper

NM_000314.8

p.F37_D51del15

c.109_152del45

1 paper

NM_000314.8

p.F37Y

c.110T>A

3 papers

NM_000314.8

p.F37S

c.110T>C

1 paper

NM_000314.8

p.F37C

c.110T>G

1 paper

NM_000314.8

p.F37insFs

c.110_111ins8

3 papers

NM_000314.8

p.F37insFs

c.110_111ins5