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

1 paper

NM_000314.8

p.I300V

c.898A>G

Surrounding Variants

9 papers

NM_000314.8

p.I300fs

c.898_899fs

1 paper

NM_000314.8

p.I300_D301insTG

c.898_902ins6

12 papers

NM_000314.8

p.I300fs

c.898_899fs

8 papers

NM_000314.8

p.I300delFs

c.900delC

1 paper

NM_000314.8

p.E299insFs

c.896_897insG

1 paper

NM_000314.8

p.E299A

c.896A>C

3 papers

NM_000314.8

p.E299G

c.896A>G

2 papers

NM_000314.8

p.E299V

c.896A>T

7 papers

NM_000314.8

p.I300I

c.900C>T

2 papers

NM_000314.8

p.D301delFs

c.901delG

12 papers

NM_000314.8

p.D301N

c.901G>A

1 paper

NM_000314.8

p.E299K

c.895G>A