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

3 papers

NM_000311.5

p.G142D

c.425G>A

Surrounding Variants

30 papers

NM_000311.5

p.G142S

c.424G>A

2 papers

NM_000311.5

p.F141L

c.423C>A

2 papers

NM_000311.5

p.F141L

c.423C>G

5 papers

NM_000311.5

p.S143N

c.428G>A

2 papers

NM_000311.5

p.F141L

c.421T>C

1 paper

NM_000311.5

p.D144delFs

c.430delG

2 papers

NM_000311.5

p.D144N

c.430G>A

1 paper

NM_000311.5

p.D144A

c.431A>C

2 papers

NM_000311.5

p.H140R

c.419A>G

1 paper

NM_000311.5

p.D144G

c.431A>G

1 paper

NM_000311.5

p.H140N

c.418C>A

2 papers

NM_000311.5

p.I139M

c.417A>G