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

3 papers

NM_000314.8

p.F90C

c.269T>G

Surrounding Variants

20 papers

NM_000314.8

p.F90S

c.269T>C

1 paper

NM_000314.8

p.F90insFs

c.269_270ins4

1 paper

NM_000314.8

p.F90_E91insFs

c.270_271dupTG

6 papers

NM_000314.8

p.F90L

c.270T>A

1 paper

NM_000314.8

p.F90I

c.268T>A

6 papers

NM_000314.8

p.F90L

c.268T>C

6 papers

NM_000314.8

p.F90L

c.270T>G

1 paper

NM_000314.8

p.F90V

c.268T>G

7 papers

NM_000314.8

p.F90fs

c.268_269fs

1 paper

NM_000314.8

p.E91delFs

c.271delG

1 paper

NM_000314.8

p.E91del1

c.271_272delGAA

6 papers

NM_000314.8

p.F90fs

c.268_269fs