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

53 papers

NM_000314.8

p.N323insFs

c.968dupA

Surrounding Variants

1 paper

NM_000314.8

p.T321insFs

c.962_963ins29

4 papers

NM_000314.8

p.T321I

c.962C>T

45 papers

NM_000314.8

p.N323delFs

c.968delA

1 paper

NM_000314.8

p.N323delFs

c.967_968delAA

30 papers

NM_000314.8

p.T321fs

c.961_962fs

4 papers

NM_000314.8

p.T321A

c.961A>G

1 paper

NM_000314.8

p.K322_N323del2

c.964_968del6

1 paper

NM_000314.8

p.T321delFs

c.962delC

3 papers

NM_000314.8

p.T321fs

c.961_962fs

1 paper

NM_000314.8

p.L320F

c.960A>C

5 papers

NM_000314.8

p.K322E

c.964A>G

4 papers

NM_000314.8

p.K322*

c.964A>T