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

2 papers

NM_000314.8

p.K223delFs

c.668delA

Surrounding Variants

1 paper

NM_000314.8

p.V222V

c.666G>A

1 paper

NM_000314.8

p.V222_K223insFs

c.666_667insA

1 paper

NM_000314.8

p.K223_I224delFs

c.668_672del5

2 papers

NM_000314.8

p.K223fs

c.667_668fs

5 papers

NM_000314.8

p.K223*

c.667A>T

1 paper

NM_000314.8

p.K223fs

c.667_668fs

3 papers

NM_000314.8

p.V222A

c.665T>C

1 paper

NM_000314.8

p.K221_G230delins

c.663_688delinsGGCAA

2 papers

NM_000314.8

p.K223R

c.668A>G

4 papers

NM_000314.8

p.V222M

c.664G>A

1 paper

NM_000314.8

p.V222L

c.664G>C

1 paper

NM_000314.8

p.V222fs

c.664_665fs