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.R25_P28delFs

c.75_82del8

Surrounding Variants

1 paper

NM_000311.5

p.R25H

c.74G>A

1 paper

NM_000311.5

p.P26delFs

c.76_77delCC

1 paper

NM_000311.5

p.R25C

c.73C>T

2 papers

NM_000311.5

p.P26_P28del0

c.76_84del9

1 paper

NM_000311.5

p.K24N

c.72G>T

3 papers

NM_000311.5

p.K24R

c.71A>G

2 papers

NM_000311.5

p.P26L

c.77C>T

3 papers

NM_000311.5

p.K24E

c.70A>G

1 paper

NM_000311.5

p.K27insFs

c.79_80insC

2 papers

NM_000311.5

p.K27E

c.79A>G

1 paper

NM_000311.5

p.K23R

c.68A>G

1 paper

NM_000311.5

p.K27R

c.80A>G