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

2 papers

NM_000314.8

p.D51N

c.151G>A

Surrounding Variants

1 paper

NM_000314.8

p.D51H

c.151G>C

1 paper

NM_000314.8

p.D51fs

c.151_152fs

1 paper

NM_000314.8

p.D51Y

c.151G>T

1 paper

NM_000314.8

p.D51A

c.152A>C

2 papers

NM_000314.8

p.D51G

c.152A>G

2 papers

NM_000314.8

p.D51V

c.152A>T

2 papers

NM_000314.8

p.I50M

c.150T>G

4 papers

NM_000314.8

p.I50N

c.149T>A

2 papers

NM_000314.8

p.D51E

c.153T>A

12 papers

NM_000314.8

p.I50T

c.149T>C

2 papers

NM_000314.8

p.D51E

c.153T>G

1 paper

NM_000314.8

p.I50S

c.149T>G