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

9 papers

NM_000314.8

p.Y178C

c.533A>G

Surrounding Variants

2 papers

NM_000314.8

p.Y178S

c.533A>C

1 paper

NM_000314.8

p.Y178F

c.533A>T

21 papers

NM_000314.8

p.Y178*

c.534T>A

4 papers

NM_000314.8

p.Y178N

c.532T>A

5 papers

NM_000314.8

p.Y178H

c.532T>C

18 papers

NM_000314.8

p.Y178*

c.534T>G

3 papers

NM_000314.8

p.Y178D

c.532T>G

2 papers

NM_000314.8

p.Y178fs

c.532_533fs

1 paper

NM_000314.8

p.Y178Fs

c.532delinsTTGFs

2 papers

NM_000314.8

p.Y178_S179delins

c.534_535delinsAT

3 papers

NM_000314.8

p.Y178fs

c.532_533fs

5 papers

NM_000314.8

p.S179fs

c.535_536fs