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.S113T

c.338G>C

Surrounding Variants

2 papers

NM_000314.8

p.S113N

c.338G>A

4 papers

NM_000314.8

p.S113I

c.338G>T

3 papers

NM_000314.8

p.S113fs

c.337_338fs

1 paper

NM_000314.8

p.S113R

c.337A>C

4 papers

NM_000314.8

p.S113fs

c.337_338fs

1 paper

NM_000314.8

p.S113R

c.339T>A

1 paper

NM_000314.8

p.S113R

c.339T>G

1 paper

NM_000314.8

p.S113_E114insFs

c.339_340insC

2 papers

NM_000314.8

p.E114K

c.340G>A

1 paper

NM_000314.8

p.E114_I122insFs

c.342_364dup23

1 paper

NM_000314.8

p.E114fs

c.340_341fs

4 papers

NM_000314.8

p.E114*

c.340G>T