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.K24_K27del0

c.72_80del9

Surrounding Variants

1 paper

NM_000311.5

p.K23R

c.68A>G

2 papers

NM_000311.5

p.K23M

c.68A>T

2 papers

NM_000311.5

p.K23E

c.67A>G

3 papers

NM_000311.5

p.K24E

c.70A>G

3 papers

NM_000311.5

p.K24R

c.71A>G

1 paper

NM_000311.5

p.C22Y

c.65G>A

1 paper

NM_000311.5

p.K24N

c.72G>T

3 papers

NM_000311.5

p.L21L

c.63C>G

3 papers

NM_000311.5

p.L21L

c.63C>T

1 paper

NM_000311.5

p.R25C

c.73C>T

1 paper

NM_000311.5

p.C22_K24delFs

c.64_71del8

1 paper

NM_000311.5

p.R25H

c.74G>A