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

5 papers

NM_000314.8

p.V53E

c.158T>A

Surrounding Variants

8 papers

NM_000314.8

p.V53A

c.158T>C

3 papers

NM_000314.8

p.V53G

c.158T>G

5 papers

NM_000314.8

p.V53insFs

c.158_159ins4

1 paper

NM_000314.8

p.V53insFs

c.158_159ins4

1 paper

NM_000314.8

p.V53_V54insFs

c.159_160ins4

1 paper

NM_000314.8

p.V53V

c.159A>G

1 paper

NM_000314.8

p.V54_R55delFs

c.160_164del5

5 papers

NM_000314.8

p.V53I

c.157G>A

2 papers

NM_000314.8

p.V53L

c.157G>C

1 paper

NM_000314.8

p.V53fs

c.157_158fs

2 papers

NM_000314.8

p.V53L

c.157G>T

2 papers

NM_000314.8

p.V54I

c.160G>A