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.V121L

c.361G>T

Surrounding Variants

1 paper

NM_000311.5

p.A120A

c.360A>G

1 paper

NM_000311.5

p.V121delFs

c.361delG

1 paper

NM_000311.5

p.A120G

c.359C>G

1 paper

NM_000311.5

p.A120P

c.358G>C

2 papers

NM_000311.5

p.G119G

c.357G>A

1 paper

NM_000311.5

p.V122A

c.365T>C

1 paper

NM_000311.5

p.V122G

c.365T>G

2 papers

NM_000311.5

p.G119A

c.356G>C

2 papers

NM_000311.5

p.G123R

c.367G>A

1 paper

NM_000311.5

p.G119R

c.355G>A

1 paper

NM_000311.5

p.G119R

c.355G>C

1 paper

NM_000311.5

p.G123A

c.368G>C