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

3 papers

NM_000314.8

p.D326fs

c.976_977fs

Surrounding Variants

31 papers

NM_000314.8

p.D326N

c.976G>A

13 papers

NM_000314.8

p.D326H

c.976G>C

4 papers

NM_000314.8

p.D326fs

c.976_977fs

4 papers

NM_000314.8

p.D326Y

c.976G>T

1 paper

NM_000314.8

p.D326_K327delFs

c.978_979delCA

1 paper

NM_000314.8

p.D326insFs

c.977_978insC

12 papers

NM_000314.8

p.D326G

c.977A>G

3 papers

NM_000314.8

p.D326V

c.977A>T

1 paper

NM_000314.8

p.A328_N329delFs

c.982_986del5

1 paper

NM_000314.8

p.L325_K330delins

c.975_988delinsCGCTT

2 papers

NM_000314.8

p.D326E

c.978C>A

1 paper

NM_000314.8

p.K327insFs

c.981dupA