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.N153N

c.459C>T

Surrounding Variants

1 paper

NM_000311.5

p.M154I

c.462G>A

1 paper

NM_000311.5

p.M154I

c.462G>C

1 paper

NM_000311.5

p.M154I

c.462G>T

2 papers

NM_000311.5

p.E152A

c.455A>C

1 paper

NM_000311.5

p.H155N

c.463C>A

3 papers

NM_000311.5

p.H155Y

c.463C>T

3 papers

NM_000311.5

p.R156C

c.466C>T

12 papers

NM_000311.5

p.R151H

c.452G>A

5 papers

NM_000311.5

p.R151G

c.451C>G

14 papers

NM_000311.5

p.R151C

c.451C>T

1 paper

NM_000311.5

p.R156_Y157delFs

c.468_469delTT

1 paper

NM_000311.5

p.Y150Y

c.450T>C