Varaico: Literature-Extracted Genetic Variants

PRNP

2,522 papers

RefSeq Summary

The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable regio...

Pfam Domains

Prion_bPrPpaa 1–28UCSCMajor prion protein bPrPp - N terminal

Prion_octapepaa 50–95UCSCCopper binding octapeptide repeat region

Prionaa 134–252UCSCPrion/Doppel alpha-helical domain

Gene Aliases

HGNC Name

prion protein

HGNC Previous Symbols

PRIP; CJD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000311.5

p.E219Q

c.655G>C

Surrounding Variants

130 papers

NM_000311.5

p.E219K

c.655G>A

1 paper

NM_000311.5

p.E219A

c.656A>C

2 papers

NM_000311.5

p.E219G

c.656A>G

1 paper

NM_000311.5

p.Y218Y

c.654C>T

2 papers

NM_000311.5

p.Y218C

c.653A>G

43 papers

NM_000311.5

p.Y218N

c.652T>A

11 papers

NM_000311.5

p.R220K

c.659G>A

130 papers

NM_000311.5

p.Q217R

c.650A>G

1 paper

NM_000311.5

p.Q217K

c.649C>A

2 papers

NM_000311.5

p.E221K

c.661G>A

1 paper

NM_000311.5

p.E221G

c.662A>G

1 paper

NM_000311.5

p.T216_Q217ins10

c.646_650ins30