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

6 papers

NM_000314.8

p.K164E

c.490A>G

Surrounding Variants

15 papers

NM_000314.8

p.K164fs

c.490_491fs

1 paper

NM_000314.8

p.K164_G165insG

c.490_494ins3

1 paper

NM_000314.8

p.K164Q

c.490A>C

2 papers

NM_000314.8

p.K164*

c.490A>T

1 paper

NM_000314.8

p.K164delFs

c.491_492delAG

13 papers

NM_000314.8

p.K164fs

c.490_491fs

1 paper

NM_000314.8

p.K164insFs

c.491_492insT

2 papers

NM_000314.8

p.K163N

c.489A>C

1 paper

NM_000314.8

p.K164T

c.491A>C

4 papers

NM_000314.8

p.K164R

c.491A>G

2 papers

NM_000314.8

p.K163N

c.489A>T

4 papers

NM_000314.8

p.K164delFs

c.492delG