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.K269_M270insFs

c.807_808insTT

Surrounding Variants

1 paper

NM_000314.8

p.K269N

c.807A>C

1 paper

NM_000314.8

p.K269N

c.807A>T

1 paper

NM_000314.8

p.M270delFs

c.808_809delAT

2 papers

NM_000314.8

p.M270fs

c.808_809fs

1 paper

NM_000314.8

p.K269T

c.806A>C

2 papers

NM_000314.8

p.K269R

c.806A>G

1 paper

NM_000314.8

p.M270V

c.808A>G

1 paper

NM_000314.8

p.M270L

c.808A>T

1 paper

NM_000314.8

p.K269_F273ins1

c.806_817dup12

1 paper

NM_000314.8

p.K269_M270ins4

c.805_809ins12

2 papers

NM_000314.8

p.K269Q

c.805A>C

2 papers

NM_000314.8

p.K269E

c.805A>G