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.V365V

c.1095A>T

Surrounding Variants

2 papers

NM_000314.8

p.T366P

c.1096A>C

26 papers

NM_000314.8

p.T366A

c.1096A>G

1 paper

NM_000314.8

p.T366S

c.1096A>T

1 paper

NM_000314.8

p.T366fs

c.1096_1097fs

1 paper

NM_000314.8

p.T366I

c.1097C>T

9 papers

NM_000314.8

p.V365I

c.1093G>A

1 paper

NM_000314.8

p.V365L

c.1093G>C

1 paper

NM_000314.8

p.V365fs

c.1093_1094fs

1 paper

NM_000314.8

p.V365_P367delFs

c.1094_1100del7

6 papers

NM_000314.8

p.P367delFs

c.1100delC

1 paper

NM_000314.8

p.S364Y

c.1091C>A

2 papers

NM_000314.8

p.P367fs

c.1099_1100fs