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.R164M

c.491G>T

Surrounding Variants

1 paper

NM_000311.5

p.R164R

c.490A>C

1 paper

NM_000311.5

p.R164G

c.490A>G

1 paper

NM_000311.5

p.P165_M166insFs

c.495_496ins5

56 papers

NM_000311.5

p.Y163*

c.489C>A

59 papers

NM_000311.5

p.Y163*

c.489C>G

2 papers

NM_000311.5

p.P165S

c.493C>T

1 paper

NM_000311.5

p.Y163S

c.488A>C

1 paper

NM_000311.5

p.P165H

c.494C>A

8 papers

NM_000311.5

p.M166V

c.496A>G

10 papers

NM_000311.5

p.Y162*

c.486C>A

10 papers

NM_000311.5

p.Y162*

c.486C>G

2 papers

NM_000311.5

p.M166I

c.498G>A