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.L100fs

c.298_299fs

Surrounding Variants

1 paper

NM_000314.8

p.L100I

c.298C>A

2 papers

NM_000314.8

p.L100insFs

c.298_299insT

2 papers

NM_000314.8

p.L100V

c.298C>G

5 papers

NM_000314.8

p.L100F

c.298C>T

1 paper

NM_000314.8

p.L100fs

c.298_299fs

1 paper

NM_000314.8

p.E99D

c.297A>C

1 paper

NM_000314.8

p.E99E

c.297A>G

1 paper

NM_000314.8

p.E99D

c.297A>T

1 paper

NM_000314.8

p.L100H

c.299T>A

5 papers

NM_000314.8

p.L100P

c.299T>C

2 papers

NM_000314.8

p.L100R

c.299T>G

1 paper

NM_000314.8

p.E99A

c.296A>C