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.D153delFs

c.457_458delGA

Surrounding Variants

1 paper

NM_000314.8

p.L152Q

c.455T>A

16 papers

NM_000314.8

p.L152P

c.455T>C

3 papers

NM_000314.8

p.L152R

c.455T>G

1 paper

NM_000314.8

p.L152insFs

c.456dupA

1 paper

NM_000314.8

p.L152I

c.454C>A

1 paper

NM_000314.8

p.L152fs

c.454_455fs

5 papers

NM_000314.8

p.L152V

c.454C>G

1 paper

NM_000314.8

p.L152L

c.454C>T

1 paper

NM_000314.8

p.L152delFs

c.455delT

2 papers

NM_000314.8

p.L152fs

c.454_455fs

1 paper

NM_000314.8

p.L152_D153delFs

c.455_459del5

1 paper

NM_000314.8

p.L152_F154delFs

c.455_461del7