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.E256fs

c.766_767fs

Surrounding Variants

18 papers

NM_000314.8

p.E256K

c.766G>A

1 paper

NM_000314.8

p.E256Q

c.766G>C

14 papers

NM_000314.8

p.E256*

c.766G>T

7 papers

NM_000314.8

p.E256fs

c.766_767fs

1 paper

NM_000314.8

p.E256_K260delFs

c.768_780del13

1 paper

NM_000314.8

p.E256insFs

c.768dupG

3 papers

NM_000314.8

p.E256A

c.767A>C

2 papers

NM_000314.8

p.E256G

c.767A>G

1 paper

NM_000314.8

p.E256V

c.767A>T

1 paper

NM_000314.8

p.E256E

c.768G>A

1 paper

NM_000314.8

p.E256D

c.768G>C

5 papers

NM_000314.8

p.V255E

c.764T>A