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.Y138_L139insFs

c.412_416dup5

Surrounding Variants

1 paper

NM_000314.8

p.L139_L140delFs

c.416_419del4

3 papers

NM_000314.8

p.A137V

c.410C>T

1 paper

NM_000314.8

p.A137delFs

c.411delA

1 paper

NM_000314.8

p.Y138delFs

c.413_414delAT

1 paper

NM_000314.8

p.A137_Y138del1

c.411_413delATA

1 paper

NM_000314.8

p.Y138_L140del0

c.412_420del9

3 papers

NM_000314.8

p.Y138H

c.412T>C

7 papers

NM_000314.8

p.Y138D

c.412T>G

1 paper

NM_000314.8

p.Y138insFs

c.413dupA

4 papers

NM_000314.8

p.Y138fs

c.412_413fs

1 paper

NM_000314.8

p.Y138delins

c.412_413delinsCT

1 paper

NM_000314.8

p.Y138fs

c.412_413fs