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.N47K

c.141C>A

Surrounding Variants

1 paper

NM_000311.5

p.N47T

c.140A>C

1 paper

NM_000311.5

p.R48H

c.143G>A

1 paper

NM_000311.5

p.R48R

c.144C>T

1 paper

NM_000311.5

p.Y49insFs

c.146_147ins4

1 paper

NM_000311.5

p.Y49C

c.146A>G

1 paper

NM_000311.5

p.G46insFs

c.136_137insG

2 papers

NM_000311.5

p.G45G

c.135A>C

1 paper

NM_000311.5

p.P50del1

c.148_149delCCA

1 paper

NM_000311.5

p.P50T

c.148C>A

4 papers

NM_000311.5

p.P50S

c.148C>T

1 paper

NM_000311.5

p.P50delFs

c.150delA

2 papers

NM_000311.5

p.G45R

c.133G>A