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.K330fs

c.988_989fs

Surrounding Variants

3 papers

NM_000314.8

p.K330E

c.988A>G

1 paper

NM_000314.8

p.K330*

c.988A>T

1 paper

NM_000314.8

p.K330_D331del1

c.989_991delAAG

3 papers

NM_000314.8

p.K330R

c.989A>G

3 papers

NM_000314.8

p.K330I

c.989A>T

1 paper

NM_000314.8

p.D331delFs

c.991_992delGA

1 paper

NM_000314.8

p.N329K

c.987T>A

1 paper

NM_000314.8

p.N329K

c.987T>G

2 papers

NM_000314.8

p.K330insFs

c.990dupA

2 papers

NM_000314.8

p.K330delFs

c.990delA

1 paper

NM_000314.8

p.K330delFs

c.989_990delAA

1 paper

NM_000314.8

p.K330_D331delFs

c.989_992del4