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

24 papers

NM_000314.8

p.D268E

c.804C>G

Surrounding Variants

26 papers

NM_000314.8

p.D268E

c.804C>A

1 paper

NM_000314.8

p.K269insFs

c.805dupA

1 paper

NM_000314.8

p.D268_K269insFs

c.804_805insG

1 paper

NM_000314.8

p.D268_K269insFs

c.804_805ins5

1 paper

NM_000314.8

p.K269_F273ins1

c.806_817dup12

1 paper

NM_000314.8

p.D268insFs

c.803_804ins26

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

5 papers

NM_000314.8

p.K269*

c.805A>T

3 papers

NM_000314.8

p.D268V

c.803A>T

3 papers

NM_000314.8

p.K269fs

c.805_806fs