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.Q67_P68insFs

c.201_202insC

Surrounding Variants

2 papers

NM_000311.5

p.Q67L

c.200A>T

1 paper

NM_000311.5

p.Q67*

c.199C>T

1 paper

NM_000311.5

p.G66_Q67ins6

c.198_199ins18

2 papers

NM_000311.5

p.P68_Q83del0

c.202_249del48

3 papers

NM_000311.5

p.P68P

c.204T>C

1 paper

NM_000311.5

p.G74_G82ins3

c.222_245dup24

1 paper

NM_000311.5

p.H69Y

c.205C>T

1 paper

NM_000311.5

p.H69R

c.206A>G

1 paper

NM_000311.5

p.G66_Q67ins6

c.196_200ins18

1 paper

NM_000311.5

p.W65*

c.195G>A

2 papers

NM_000311.5

p.W65*

c.194G>A

1 paper

NM_000311.5

p.G70S

c.208G>A