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

8 papers

NM_000314.8

p.D162V

c.485A>T

Surrounding Variants

1 paper

NM_000314.8

p.D162A

c.485A>C

5 papers

NM_000314.8

p.D162G

c.485A>G

3 papers

NM_000314.8

p.D162delFs

c.486delC

2 papers

NM_000314.8

p.D162_K163Fs

c.485_487delinsCCFs

7 papers

NM_000314.8

p.D162E

c.486C>A

8 papers

NM_000314.8

p.K163insFs

c.487dupA

7 papers

NM_000314.8

p.D162E

c.486C>G

17 papers

NM_000314.8

p.K164delFs

c.491delA

1 paper

NM_000314.8

p.K164delFs

c.490_491delAA

3 papers

NM_000314.8

p.D162N

c.484G>A

5 papers

NM_000314.8

p.D162H

c.484G>C

6 papers

NM_000314.8

p.D162fs

c.484_485fs