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

2 papers

NM_000314.8

p.L108I

c.322C>A

Surrounding Variants

1 paper

NM_000314.8

p.L108fs

c.322_323fs

1 paper

NM_000314.8

p.L108insFs

c.323_324insT

4 papers

NM_000314.8

p.L108V

c.322C>G

12 papers

NM_000314.8

p.L108F

c.322C>T

3 papers

NM_000314.8

p.L108delFs

c.324delT

7 papers

NM_000314.8

p.D107E

c.321T>A

3 papers

NM_000314.8

p.L108H

c.323T>A

31 papers

NM_000314.8

p.L108P

c.323T>C

28 papers

NM_000314.8

p.L108R

c.323T>G

3 papers

NM_000314.8

p.D107E

c.321T>G

1 paper

NM_000314.8

p.L108insFs

c.323_324insTA

1 paper

NM_000314.8

p.L108delFs

c.322delC