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.L265R

c.794T>G

Surrounding Variants

2 papers

NM_000314.8

p.L265Q

c.794T>A

4 papers

NM_000314.8

p.L265P

c.794T>C

15 papers

NM_000314.8

p.K267insFs

c.800dupA

83 papers

NM_000314.8

p.K267delFs

c.800delA

1 paper

NM_000314.8

p.K266_K267delFs

c.796_800del5

1 paper

NM_000314.8

p.L265I

c.793C>A

19 papers

NM_000314.8

p.L265fs

c.793_794fs

1 paper

NM_000314.8

p.L265V

c.793C>G

1 paper

NM_000314.8

p.K266_K267insFs

c.797_801dup5

1 paper

NM_000314.8

p.K266fs

c.796_797fs

1 paper

NM_000314.8

p.K266Q

c.796A>C

2 papers

NM_000314.8

p.K266E

c.796A>G