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

2 papers

NM_000314.8

p.N311S

c.932A>G

Surrounding Variants

1 paper

NM_000314.8

p.T319insFs

c.955_956ins25

7 papers

NM_000314.8

p.N311fs

c.931_932fs

3 papers

NM_000314.8

p.N311fs

c.931_932fs

1 paper

NM_000314.8

p.N311K

c.933T>A

1 paper

NM_000314.8

p.N311K

c.933T>G

1 paper

NM_000314.8

p.D312_K313del2

c.934_938del6

5 papers

NM_000314.8

p.D312N

c.934G>A

1 paper

NM_000314.8

p.D312fs

c.934_935fs

2 papers

NM_000314.8

p.D312delFs

c.935delA

2 papers

NM_000314.8

p.D312fs

c.934_935fs

1 paper

NM_000314.8

p.D312_Y315del0

c.935_943del9

1 paper

NM_000314.8

p.N311_D312insFs

c.932_935dup4