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

39 papers

NM_000314.8

p.Y336*

c.1008C>G

Surrounding Variants

39 papers

NM_000314.8

p.Y336*

c.1008C>A

3 papers

NM_000314.8

p.F337insFs

c.1010dupT

9 papers

NM_000314.8

p.F337delFs

c.1009delT

1 paper

NM_000314.8

p.F337delFs

c.1010_1011delTT

1 paper

NM_000314.8

p.Y336C

c.1007A>G

3 papers

NM_000314.8

p.Y336F

c.1007A>T

1 paper

NM_000314.8

p.Y336delFs

c.1008delC

1 paper

NM_000314.8

p.F337I

c.1009T>A

2 papers

NM_000314.8

p.F337L

c.1009T>C

4 papers

NM_000314.8

p.F337fs

c.1009_1010fs

1 paper

NM_000314.8

p.F337_S338delFs

c.1011_1014del4

6 papers

NM_000314.8

p.F337S

c.1010T>C