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

12 papers

NM_000314.8

p.Y46*

c.138C>G

Surrounding Variants

10 papers

NM_000314.8

p.Y46*

c.138C>A

1 paper

NM_000314.8

p.Y46Y

c.138C>T

1 paper

NM_000314.8

p.R47insFs

c.140_141insG

4 papers

NM_000314.8

p.R47fs

c.139_140fs

1 paper

NM_000314.8

p.R47_N48insA

c.139_143ins3

3 papers

NM_000314.8

p.Y46S

c.137A>C

31 papers

NM_000314.8

p.R47G

c.139A>G

6 papers

NM_000314.8

p.Y46C

c.137A>G

6 papers

NM_000314.8

p.Y46F

c.137A>T

4 papers

NM_000314.8

p.R47W

c.139A>T

1 paper

NM_000314.8

p.R47Fs

c.139delinsTTFs

1 paper

NM_000314.8

p.Y46delFs

c.138delC