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.G46insFs

c.136_137insG

Surrounding Variants

2 papers

NM_000311.5

p.G45G

c.135A>C

2 papers

NM_000311.5

p.G45R

c.133G>A

1 paper

NM_000311.5

p.P44L

c.131C>T

1 paper

NM_000311.5

p.N47T

c.140A>C

1 paper

NM_000311.5

p.P44S

c.130C>T

1 paper

NM_000311.5

p.N47K

c.141C>A

1 paper

NM_000311.5

p.S43S

c.129C>T

5 papers

NM_000311.5

p.S43N

c.128G>A

1 paper

NM_000311.5

p.R48H

c.143G>A

2 papers

NM_000311.5

p.G42G

c.126C>T

1 paper

NM_000311.5

p.R48R

c.144C>T

1 paper

NM_000311.5

p.G42D

c.125G>A