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.P158P

c.474C>T

Surrounding Variants

10 papers

NM_000311.5

p.N159D

c.475A>G

1 paper

NM_000311.5

p.N159S

c.476A>G

4 papers

NM_000311.5

p.Y157*

c.471C>A

4 papers

NM_000311.5

p.Y157*

c.471C>G

2 papers

NM_000311.5

p.Q160ins3

c.478_479ins9

71 papers

NM_000311.5

p.Q160*

c.478C>T

1 paper

NM_000311.5

p.Q160R

c.479A>G

1 paper

NM_000311.5

p.Y157insFs

c.470dupA

1 paper

NM_000311.5

p.V161L

c.481G>C

1 paper

NM_000311.5

p.V161L

c.481G>T

1 paper

NM_000311.5

p.R156_Y157delFs

c.468_469delTT

3 papers

NM_000311.5

p.R156C

c.466C>T