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.P38delFs

c.112_113delCC

Surrounding Variants

1 paper

NM_000314.8

p.F37L

c.111T>A

1 paper

NM_000314.8

p.F37F

c.111T>C

1 paper

NM_000314.8

p.F37L

c.111T>G

2 papers

NM_000314.8

p.P38delFs

c.113delC

1 paper

NM_000314.8

p.F37_P38delins

c.110_114delinsTCTTA

9 papers

NM_000314.8

p.P38T

c.112C>A

2 papers

NM_000314.8

p.P38fs

c.112_113fs

2 papers

NM_000314.8

p.P38_A39insC

c.112_116ins3

3 papers

NM_000314.8

p.P38A

c.112C>G

45 papers

NM_000314.8

p.P38S

c.112C>T

1 paper

NM_000314.8

p.P38delins

c.112_113delinsTT

3 papers

NM_000314.8

p.P38fs

c.112_113fs