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

33 papers

NM_000311.5

p.A133V

c.398C>T

Surrounding Variants

1 paper

NM_000311.5

p.M134V

c.400A>G

3 papers

NM_000311.5

p.S132N

c.395G>A

21 papers

NM_000311.5

p.S132I

c.395G>T

1 paper

NM_000311.5

p.M134T

c.401T>C

5 papers

NM_000311.5

p.S132C

c.394A>T

1 paper

NM_000311.5

p.M134I

c.402G>A

1 paper

NM_000311.5

p.S135R

c.403A>C

1 paper

NM_000311.5

p.G131G

c.393A>G

1 paper

NM_000311.5

p.S135C

c.403A>T

2 papers

NM_000311.5

p.S135N

c.404G>A

1 paper

NM_000311.5

p.G131E

c.392G>A

1 paper

NM_000311.5

p.G131A

c.392G>C