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.G82G

c.246A>G

Surrounding Variants

1 paper

NM_000311.5

p.Q83_Q91del0

c.249_272del24

1 paper

NM_000311.5

p.Q83*

c.247C>T

1 paper

NM_000311.5

p.Q83_G92del0

c.248_274del27

1 paper

NM_000311.5

p.G82R

c.244G>A

2 papers

NM_000311.5

p.W81*

c.243G>A

1 paper

NM_000311.5

p.P84A

c.250C>G

13 papers

NM_000311.5

p.P84S

c.250C>T

2 papers

NM_000311.5

p.W81*

c.242G>A

1 paper

NM_000311.5

p.P84P

c.252T>C

1 paper

NM_000311.5

p.H85N

c.253C>A

2 papers

NM_000311.5

p.H85Y

c.253C>T

1 paper

NM_000311.5

p.G80ins1

c.239_240insGGC