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

4 papers

NM_000314.8

p.V216L

c.646G>C

Surrounding Variants

8 papers

NM_000314.8

p.V216M

c.646G>A

4 papers

NM_000314.8

p.V216fs

c.646_647fs

5 papers

NM_000314.8

p.V216L

c.646G>T

1 paper

NM_000314.8

p.F215L

c.645T>A

1 paper

NM_000314.8

p.V216E

c.647T>A

1 paper

NM_000314.8

p.F215L

c.645T>G

1 paper

NM_000314.8

p.V216G

c.647T>G

1 paper

NM_000314.8

p.V216_V217del1

c.648_650delGGT

1 paper

NM_000314.8

p.V217del1

c.649_650delGTC

1 paper

NM_000314.8

p.V217_L220del4

c.649_659del12

1 paper

NM_000314.8

p.V217_V222delFs

c.650_666del17

2 papers

NM_000314.8

p.F215S

c.644T>C