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.P281ins1

c.842_843insCTG

Surrounding Variants

1 paper

NM_000314.8

p.P281R

c.842C>G

5 papers

NM_000314.8

p.P281L

c.842C>T

1 paper

NM_000314.8

p.P281_G282insFs

c.843_844insG

1 paper

NM_000314.8

p.G282delFs

c.845delG

1 paper

NM_000314.8

p.P281T

c.841C>A

2 papers

NM_000314.8

p.P281fs

c.841_842fs

7 papers

NM_000314.8

p.P281A

c.841C>G

4 papers

NM_000314.8

p.P281S

c.841C>T

1 paper

NM_000314.8

p.P281insFs

c.842_843insC

3 papers

NM_000314.8

p.P281delFs

c.842delC

2 papers

NM_000314.8

p.G282R

c.844G>A

3 papers

NM_000314.8

p.G282R

c.844G>C