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

12 papers

NM_000311.5

p.F198V

c.592T>G

Surrounding Variants

232 papers

NM_000311.5

p.F198S

c.593T>C

6 papers

NM_000311.5

p.T199A

c.595A>G

4 papers

NM_000311.5

p.N197D

c.589A>G

2 papers

NM_000311.5

p.T199N

c.596C>A

31 papers

NM_000311.5

p.E196A

c.587A>C

652 papers

NM_000311.5

p.E200K

c.598G>A

119 papers

NM_000311.5

p.E196K

c.586G>A

2 papers

NM_000311.5

p.E200Q

c.598G>C

1 paper

NM_000311.5

p.E196Q

c.586G>C

2 papers

NM_000311.5

p.E196*

c.586G>T

1 paper

NM_000311.5

p.E200*

c.598G>T

1 paper

NM_000311.5

p.E196fs

c.586_587fs