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.V255_F257delFs

c.763_770del8

Surrounding Variants

1 paper

NM_000314.8

p.K254N

c.762A>C

1 paper

NM_000314.8

p.K254K

c.762A>G

1 paper

NM_000314.8

p.K254N

c.762A>T

6 papers

NM_000314.8

p.K254T

c.761A>C

23 papers

NM_000314.8

p.K254R

c.761A>G

5 papers

NM_000314.8

p.V255I

c.763G>A

3 papers

NM_000314.8

p.V255fs

c.763_764fs

1 paper

NM_000314.8

p.V255delFs

c.764delT

7 papers

NM_000314.8

p.K254fs

c.760_761fs

1 paper

NM_000314.8

p.K254insFs

c.760_761insTG

1 paper

NM_000314.8

p.K254Q

c.760A>C

2 papers

NM_000314.8

p.K254E

c.760A>G