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

8 papers

NM_000311.5

p.Y225C

c.674A>G

Surrounding Variants

2 papers

NM_000311.5

p.Y225F

c.674A>T

2 papers

NM_000311.5

p.Y225*

c.675T>A

1 paper

NM_000311.5

p.Y225H

c.673T>C

2 papers

NM_000311.5

p.Y225*

c.675T>G

1 paper

NM_000311.5

p.Y226H

c.676T>C

2 papers

NM_000311.5

p.Y226F

c.677A>T

8 papers

NM_000311.5

p.A224V

c.671C>T

50 papers

NM_000311.5

p.Y226*

c.678C>A

50 papers

NM_000311.5

p.Y226*

c.678C>G

1 paper

NM_000311.5

p.Y226Y

c.678C>T

1 paper

NM_000311.5

p.Q227K

c.679C>A

1 paper

NM_000311.5

p.Q227_R228ins4

c.679_683ins12