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

1–12 of 701 variants

652 papers

NM_000311.5

p.E200K

c.598G>A

586 papers

NM_000311.5

p.D178N

c.532G>A

505 papers

NM_000311.5

p.P102L

c.305C>T

345 papers

NM_000311.5

p.M129V

c.385A>G

293 papers

NM_000311.5

p.A117V

c.350C>T

232 papers

NM_000311.5

p.F198S

c.593T>C

224 papers

NM_000311.5

p.V210I

c.628G>A

221 papers

NM_000311.5

p.V180I

c.538G>A

190 papers

NM_000311.5

p.P105L

c.314C>T

157 papers

NM_000311.5

p.T183A

c.547A>G

154 papers

NM_000311.5

p.H61Q

c.183T>A

134 papers

NM_000311.5

p.M232R

c.695T>G