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.V133_I135delFs

c.399_403del5

Surrounding Variants

8 papers

NM_000314.8

p.V133E

c.398T>A

1 paper

NM_000314.8

p.V133_I135insFs

c.399_403dup5

1 paper

NM_000314.8

p.M134delFs

c.400delA

1 paper

NM_000314.8

p.V133V

c.399A>T

8 papers

NM_000314.8

p.M134del1

c.400_401delATG

1 paper

NM_000314.8

p.I135_C136delFs

c.403_407del5

35 papers

NM_000314.8

p.V133I

c.397G>A

2 papers

NM_000314.8

p.V133L

c.397G>C

1 paper

NM_000314.8

p.V133fs

c.397_398fs

1 paper

NM_000314.8

p.V133L

c.397G>T

2 papers

NM_000314.8

p.M134fs

c.400_401fs

11 papers

NM_000314.8

p.M134L

c.400A>C