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.G282V

c.845G>T

Surrounding Variants

1 paper

NM_000314.8

p.G282E

c.845G>A

4 papers

NM_000314.8

p.G282A

c.845G>C

1 paper

NM_000314.8

p.P283_T286delFs

c.849_858del10

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

2 papers

NM_000314.8

p.G282R

c.844G>A

3 papers

NM_000314.8

p.G282R

c.844G>C

1 paper

NM_000314.8

p.G282fs

c.844_845fs

6 papers

NM_000314.8

p.G282*

c.844G>T

1 paper

NM_000314.8

p.P281_G282insFs

c.843_844insG

1 paper

NM_000314.8

p.G282delFs

c.845delG