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

2 papers

NM_000314.8

p.P103R

c.308C>G

Surrounding Variants

2 papers

NM_000314.8

p.P103H

c.308C>A

2 papers

NM_000314.8

p.P103L

c.308C>T

1 paper

NM_000314.8

p.P103_F104delFs

c.309_312del4

1 paper

NM_000314.8

p.P103_F104insFs

c.309_310ins10

3 papers

NM_000314.8

p.P103fs

c.307_308fs

3 papers

NM_000314.8

p.P103_F104insFs

c.309_310insT

1 paper

NM_000314.8

p.P103P

c.309C>G

6 papers

NM_000314.8

p.P103S

c.307C>T

1 paper

NM_000314.8

p.P103fs

c.307_308fs

1 paper

NM_000314.8

p.P103_L112Fs

c.307_334delinsACCCTFs

5 papers

NM_000314.8

p.C105delFs

c.313delT

1 paper

NM_000314.8

p.F104_C105delFs

c.312_313delTT