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

18 papers

NM_000314.8

p.N117S

c.350A>G

Surrounding Variants

3 papers

NM_000314.8

p.N117T

c.350A>C

3 papers

NM_000314.8

p.N117fs

c.349_350fs

6 papers

NM_000314.8

p.N117H

c.349A>C

2 papers

NM_000314.8

p.N117D

c.349A>G

2 papers

NM_000314.8

p.N117fs

c.349_350fs

1 paper

NM_000314.8

p.H118insFs

c.352dupC

2 papers

NM_000314.8

p.H118delFs

c.352delC

1 paper

NM_000314.8

p.D116E

c.348C>A

3 papers

NM_000314.8

p.N117insFs

c.350_351insA

2 papers

NM_000314.8

p.H118insFs

c.353_354insA

3 papers

NM_000314.8

p.H118fs

c.352_353fs

1 paper

NM_000314.8

p.H118D

c.352C>G