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.F104S

c.311T>C

Surrounding Variants

3 papers

NM_000314.8

p.F104Y

c.311T>A

1 paper

NM_000314.8

p.F104C

c.311T>G

4 papers

NM_000314.8

p.F104L

c.312T>A

2 papers

NM_000314.8

p.F104I

c.310T>A

6 papers

NM_000314.8

p.F104L

c.310T>C

4 papers

NM_000314.8

p.F104V

c.310T>G

4 papers

NM_000314.8

p.F104L

c.312T>G

2 papers

NM_000314.8

p.F104fs

c.310_311fs

1 paper

NM_000314.8

p.C105_E106delFs

c.313_317del5

2 papers

NM_000314.8

p.F104fs

c.310_311fs

1 paper

NM_000314.8

p.F104_E106delFs

c.311_317del7

3 papers

NM_000314.8

p.P103_F104insFs

c.309_310insT