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

1 paper

NM_000314.8

p.I280_P281delFs

c.840_841delAC

Surrounding Variants

1 paper

NM_000314.8

p.I280insFs

c.840dupA

1 paper

NM_000314.8

p.I280_E285delFs

c.840_855del16

1 paper

NM_000314.8

p.P281_S287del7

c.841_860del21

1 paper

NM_000314.8

p.P281insFs

c.842_843insC

1 paper

NM_000314.8

p.I280fs

c.838_839fs

4 papers

NM_000314.8

p.I280V

c.838A>G

3 papers

NM_000314.8

p.P281delFs

c.842delC

1 paper

NM_000314.8

p.I280fs

c.838_839fs

2 papers

NM_000314.8

p.F279L

c.837C>A

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