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

17 papers

NM_000314.8

p.Y65*

c.195C>A

Surrounding Variants

19 papers

NM_000314.8

p.Y65*

c.195C>G

1 paper

NM_000314.8

p.Y65Y

c.195C>T

4 papers

NM_000314.8

p.K66fs

c.196_197fs

3 papers

NM_000314.8

p.Y65S

c.194A>C

2 papers

NM_000314.8

p.K66Q

c.196A>C

22 papers

NM_000314.8

p.Y65C

c.194A>G

9 papers

NM_000314.8

p.K66E

c.196A>G

2 papers

NM_000314.8

p.Y65F

c.194A>T

1 paper

NM_000314.8

p.K66*

c.196A>T

1 paper

NM_000314.8

p.K66delFs

c.197_198delAG

1 paper

NM_000314.8

p.K66fs

c.196_197fs

1 paper

NM_000314.8

p.K66insFs

c.197_198ins14