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

4 papers

NM_000314.8

p.P283L

c.848C>T

Surrounding Variants

2 papers

NM_000314.8

p.P283delFs

c.849delA

1 paper

NM_000314.8

p.P283P

c.849A>G

2 papers

NM_000314.8

p.P283A

c.847C>G

5 papers

NM_000314.8

p.P283S

c.847C>T

1 paper

NM_000314.8

p.P283fs

c.847_848fs

1 paper

NM_000314.8

p.P283insFs

c.848_849insC

1 paper

NM_000314.8

p.P283delFs

c.848delC

1 paper

NM_000314.8

p.G282_P283Fs

c.846_847delinsTFs

4 papers

NM_000314.8

p.E284K

c.850G>A

2 papers

NM_000314.8

p.E284fs

c.850_851fs

8 papers

NM_000314.8

p.E284*

c.850G>T

2 papers

NM_000314.8

p.E284delFs

c.851delA