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.V161V

c.483G>A

Surrounding Variants

1 paper

NM_000311.5

p.Y162H

c.484T>C

1 paper

NM_000311.5

p.V161L

c.481G>C

1 paper

NM_000311.5

p.V161L

c.481G>T

10 papers

NM_000311.5

p.Y162*

c.486C>A

10 papers

NM_000311.5

p.Y162*

c.486C>G

1 paper

NM_000311.5

p.Q160R

c.479A>G

1 paper

NM_000311.5

p.Y163S

c.488A>C

2 papers

NM_000311.5

p.Q160ins3

c.478_479ins9

71 papers

NM_000311.5

p.Q160*

c.478C>T

56 papers

NM_000311.5

p.Y163*

c.489C>A

59 papers

NM_000311.5

p.Y163*

c.489C>G

1 paper

NM_000311.5

p.R164R

c.490A>C