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

130 papers

NM_000311.5

p.Q217R

c.650A>G

Surrounding Variants

1 paper

NM_000311.5

p.Q217K

c.649C>A

43 papers

NM_000311.5

p.Y218N

c.652T>A

2 papers

NM_000311.5

p.Y218C

c.653A>G

1 paper

NM_000311.5

p.T216_Q217ins10

c.646_650ins30

1 paper

NM_000311.5

p.Y218Y

c.654C>T

1 paper

NM_000311.5

p.I215I

c.645C>T

130 papers

NM_000311.5

p.E219K

c.655G>A

1 paper

NM_000311.5

p.E219Q

c.655G>C

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.I215T

c.644T>C

15 papers

NM_000311.5

p.I215V

c.643A>G