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

3 papers

NM_000314.8

p.Y155*

c.465T>G

Surrounding Variants

3 papers

NM_000314.8

p.Y155*

c.465T>A

7 papers

NM_000314.8

p.E157insFs

c.469dupG

1 paper

NM_000314.8

p.G156delFs

c.466delG

12 papers

NM_000314.8

p.Y155S

c.464A>C

73 papers

NM_000314.8

p.Y155C

c.464A>G

2 papers

NM_000314.8

p.Y155F

c.464A>T

10 papers

NM_000314.8

p.G156R

c.466G>A

9 papers

NM_000314.8

p.G156R

c.466G>C

2 papers

NM_000314.8

p.G156_E157insFs

c.467_470dup4

4 papers

NM_000314.8

p.G156W

c.466G>T

2 papers

NM_000314.8

p.G156E

c.467G>A

5 papers

NM_000314.8

p.G156V

c.467G>T