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.L23insFs

c.67_68ins7

Surrounding Variants

1 paper

NM_000314.8

p.L23I

c.67T>A

1 paper

NM_000314.8

p.L23L

c.67T>C

10 papers

NM_000314.8

p.L23V

c.67T>G

3 papers

NM_000314.8

p.L23fs

c.67_68fs

1 paper

NM_000314.8

p.L23_D24insGGC

c.67_71ins9

1 paper

NM_000314.8

p.L23insFs

c.67_68ins5

1 paper

NM_000314.8

p.L23fs

c.67_68fs

1 paper

NM_000314.8

p.L23delFs

c.68_69delTA

1 paper

NM_000314.8

p.L23_D24delFs

c.68_71del4

1 paper

NM_000314.8

p.L23_Y27delFs

c.69_79del11

17 papers

NM_000314.8

p.D22E

c.66C>A

17 papers

NM_000314.8

p.D22E

c.66C>G