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.N94H

c.280A>C

Surrounding Variants

1 paper

NM_000314.8

p.N94fs

c.280_281fs

2 papers

NM_000314.8

p.N94D

c.280A>G

2 papers

NM_000314.8

p.N94Y

c.280A>T

1 paper

NM_000314.8

p.N94_P96delFs

c.281_287del7

1 paper

NM_000314.8

p.N94Fs

c.281delinsCATATFs

1 paper

NM_000314.8

p.N94S

c.281A>G

9 papers

NM_000314.8

p.N94I

c.281A>T

2 papers

NM_000314.8

p.P95delFs

c.284delC

13 papers

NM_000314.8

p.H93Q

c.279T>A

1 paper

NM_000314.8

p.H93H

c.279T>C

14 papers

NM_000314.8

p.H93Q

c.279T>G

2 papers

NM_000314.8

p.N94_P96del3

c.280_287del9