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.L100H

c.299T>A

Surrounding Variants

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.L100I

c.298C>A

2 papers

NM_000314.8

p.L100fs

c.298_299fs

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

3 papers

NM_000314.8

p.L100L

c.300T>G

6 papers

NM_000314.8

p.I101insFs

c.301dupA

1 paper

NM_000314.8

p.L100_I101insFs

c.300_301insTG

5 papers

NM_000314.8

p.I101_K102del1

c.302_304delTCA