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.G132delFs

c.395delG

Surrounding Variants

1 paper

NM_000314.8

p.T131T

c.393T>A

1 paper

NM_000314.8

p.T131_G132insFs

c.393_394insGG

13 papers

NM_000314.8

p.T131N

c.392C>A

4 papers

NM_000314.8

p.T131S

c.392C>G

49 papers

NM_000314.8

p.T131I

c.392C>T

1 paper

NM_000314.8

p.T131_L139del0

c.393_416del24

21 papers

NM_000314.8

p.G132S

c.394G>A

6 papers

NM_000314.8

p.G132R

c.394G>C

2 papers

NM_000314.8

p.G132fs

c.394_395fs

4 papers

NM_000314.8

p.G132C

c.394G>T

2 papers

NM_000314.8

p.G132fs

c.394_395fs

1 paper

NM_000314.8

p.T131insFs

c.392dupC