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.D116D

c.348C>T

Surrounding Variants

1 paper

NM_000314.8

p.D116E

c.348C>A

3 papers

NM_000314.8

p.N117insFs

c.350_351insA

3 papers

NM_000314.8

p.N117fs

c.349_350fs

6 papers

NM_000314.8

p.N117H

c.349A>C

1 paper

NM_000314.8

p.D116A

c.347A>C

4 papers

NM_000314.8

p.D116G

c.347A>G

2 papers

NM_000314.8

p.N117D

c.349A>G

1 paper

NM_000314.8

p.D116V

c.347A>T

2 papers

NM_000314.8

p.N117fs

c.349_350fs

1 paper

NM_000314.8

p.D116delFs

c.348delC

1 paper

NM_000314.8

p.N117_H118delFs

c.350_353del4

1 paper

NM_000314.8

p.N117_A120delFs

c.350_360del11