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.D386V

c.1157A>T

Surrounding Variants

1 paper

NM_000314.8

p.D386G

c.1157A>G

1 paper

NM_000314.8

p.P387_E388del2

c.1159_1163del6

1 paper

NM_000314.8

p.P387T

c.1159C>A

1 paper

NM_000314.8

p.P387_E388ins4

c.1159_1163ins12

1 paper

NM_000314.8

p.P387S

c.1159C>T

1 paper

NM_000314.8

p.S385_D386insFs

c.1155_1156insA

1 paper

NM_000314.8

p.S385C

c.1154C>G

1 paper

NM_000314.8

p.P387P

c.1161A>T

1 paper

NM_000314.8

p.S385T

c.1153T>A

1 paper

NM_000314.8

p.S385P

c.1153T>C

46 papers

NM_000314.8

p.S385A

c.1153T>G

1 paper

NM_000314.8

p.D384E

c.1152C>A