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

35 papers

NM_000314.8

p.R159S

c.477G>C

Surrounding Variants

38 papers

NM_000314.8

p.R159S

c.477G>T

1 paper

NM_000314.8

p.T160fs

c.478_479fs

6 papers

NM_000314.8

p.T160P

c.478A>C

2 papers

NM_000314.8

p.T160A

c.478A>G

3 papers

NM_000314.8

p.T160S

c.478A>T

1 paper

NM_000314.8

p.T160fs

c.478_479fs

19 papers

NM_000314.8

p.R159K

c.476G>A

6 papers

NM_000314.8

p.R159T

c.476G>C

2 papers

NM_000314.8

p.R159insFs

c.476_477insA

3 papers

NM_000314.8

p.R159M

c.476G>T

1 paper

NM_000314.8

p.T160_K164del5

c.478_491del15

1 paper

NM_000314.8

p.R159fs

c.475_476fs