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.V158I

c.472G>A

Surrounding Variants

6 papers

NM_000314.8

p.V158L

c.472G>C

1 paper

NM_000314.8

p.V158_R159ins4

c.472_476ins12

2 papers

NM_000314.8

p.V158insFs

c.473_474insT

8 papers

NM_000314.8

p.V158L

c.472G>T

2 papers

NM_000314.8

p.V158fs

c.472_473fs

1 paper

NM_000314.8

p.V158E

c.473T>A

1 paper

NM_000314.8

p.V158G

c.473T>G

1 paper

NM_000314.8

p.V158_T160Fs

c.473_478delinsCAAAGGCFs

2 papers

NM_000314.8

p.E157insFs

c.470_471insG

1 paper

NM_000314.8

p.E157A

c.470A>C

23 papers

NM_000314.8

p.E157G

c.470A>G

1 paper

NM_000314.8

p.R159fs

c.475_476fs