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.N292fs

c.874_875fs

Surrounding Variants

6 papers

NM_000314.8

p.N292fs

c.874_875fs

1 paper

NM_000314.8

p.N292D

c.874A>G

1 paper

NM_000314.8

p.N292_L295delFs

c.876_883del8

2 papers

NM_000314.8

p.E291A

c.872A>C

1 paper

NM_000314.8

p.N292_G293insFs

c.876_877insG

3 papers

NM_000314.8

p.G293delFs

c.878delG

1 paper

NM_000314.8

p.G293_S294delFs

c.878_881del4

3 papers

NM_000314.8

p.E291K

c.871G>A

2 papers

NM_000314.8

p.G293R

c.877G>A

2 papers

NM_000314.8

p.G293R

c.877G>C

1 paper

NM_000314.8

p.E291Q

c.871G>C

8 papers

NM_000314.8

p.N292insFs

c.874_875insA