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.F145Y

c.434T>A

Surrounding Variants

5 papers

NM_000314.8

p.F145C

c.434T>G

4 papers

NM_000314.8

p.F145I

c.433T>A

1 paper

NM_000314.8

p.F145L

c.435T>A

1 paper

NM_000314.8

p.F145L

c.433T>C

2 papers

NM_000314.8

p.F145V

c.433T>G

1 paper

NM_000314.8

p.F145L

c.435T>G

2 papers

NM_000314.8

p.F145fs

c.433_434fs

1 paper

NM_000314.8

p.F145fs

c.433_434fs

1 paper

NM_000314.8

p.L146_D153delFs

c.436_458del23

1 paper

NM_000314.8

p.K144_F145insFs

c.432_433insG

4 papers

NM_000314.8

p.L146insFs

c.437dupT

3 papers

NM_000314.8

p.K144N

c.432A>C