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.R161S

c.483A>C

Surrounding Variants

1 paper

NM_000314.8

p.R161_D162insFs

c.483_484insG

2 papers

NM_000314.8

p.R161S

c.483A>T

9 papers

NM_000314.8

p.R161K

c.482G>A

3 papers

NM_000314.8

p.D162N

c.484G>A

5 papers

NM_000314.8

p.D162H

c.484G>C

6 papers

NM_000314.8

p.D162fs

c.484_485fs

4 papers

NM_000314.8

p.R161I

c.482G>T

4 papers

NM_000314.8

p.D162Y

c.484G>T

1 paper

NM_000314.8

p.D162delFs

c.485delA

2 papers

NM_000314.8

p.D162_K163delFs

c.486_487delCA

2 papers

NM_000314.8

p.D162fs

c.484_485fs

1 paper

NM_000314.8

p.R161fs

c.481_482fs