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.F21_Y27delFs

c.61_79del19

Surrounding Variants

1 paper

NM_000314.8

p.G20G

c.60A>G

2 papers

NM_000314.8

p.G20G

c.60A>T

2 papers

NM_000314.8

p.F21delFs

c.62delT

29 papers

NM_000314.8

p.G20E

c.59G>A

5 papers

NM_000314.8

p.G20A

c.59G>C

1 paper

NM_000314.8

p.G20insFs

c.60dupA

5 papers

NM_000314.8

p.G20V

c.59G>T

1 paper

NM_000314.8

p.G20delFs

c.60delA

2 papers

NM_000314.8

p.F21I

c.61T>A

7 papers

NM_000314.8

p.F21L

c.61T>C

1 paper

NM_000314.8

p.F21V

c.61T>G

2 papers

NM_000314.8

p.F21fs

c.61_62fs