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.T277delFs

c.830delC

Surrounding Variants

7 papers

NM_000314.8

p.T277fs

c.829_830fs

17 papers

NM_000314.8

p.T277A

c.829A>G

5 papers

NM_000314.8

p.T277fs

c.829_830fs

1 paper

NM_000314.8

p.T277_F279delFs

c.830_836del7

7 papers

NM_000314.8

p.T277K

c.830C>A

NM_001304717.5

p.T450K

c.1349C>A

11 papers

NM_000314.8

p.T277R

c.830C>G

32 papers

NM_000314.8

p.T277I

c.830C>T

10 papers

NM_000314.8

p.N276K

c.828T>A

10 papers

NM_000314.8

p.N276K

c.828T>G

3 papers

NM_000314.8

p.T277insFs

c.829dupA

2 papers

NM_000314.8

p.F278insFs

c.833dupT

1 paper

NM_000314.8

p.N276T

c.827A>C