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.L182insFs

c.545dupT

Surrounding Variants

1 paper

NM_000314.8

p.L182insFs

c.545_546insTT

1 paper

NM_000314.8

p.L181Q

c.542T>A

1 paper

NM_000314.8

p.L182I

c.544T>A

18 papers

NM_000314.8

p.L181P

c.542T>C

7 papers

NM_000314.8

p.L182V

c.544T>G

2 papers

NM_000314.8

p.L181R

c.542T>G

7 papers

NM_000314.8

p.L182fs

c.544_545fs

1 paper

NM_000314.8

p.L182fs

c.544_545fs

3 papers

NM_000314.8

p.L181M

c.541C>A

5 papers

NM_000314.8

p.L181L

c.541C>T

1 paper

NM_000314.8

p.L181delFs

c.542delT

1 paper

NM_000314.8

p.L181fs

c.541_542fs