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.G71A

c.212G>C

Surrounding Variants

1 paper

NM_000311.5

p.G71R

c.211G>C

2 papers

NM_000311.5

p.G72_G80del0

c.214_240del27

1 paper

NM_000311.5

p.G72_W73ins12

c.214_218ins36

1 paper

NM_000311.5

p.G72_W73ins6

c.216_217ins18

1 paper

NM_000311.5

p.G72_W73ins12

c.216_217ins36

1 paper

NM_000311.5

p.G72_W73insFs

c.216_217ins35

1 paper

NM_000311.5

p.G72ins2

c.215_216ins6

1 paper

NM_000311.5

p.G72_W73insFs

c.216_217ins10

1 paper

NM_000311.5

p.G72G

c.216C>T

1 paper

NM_000311.5

p.G70S

c.208G>A

1 paper

NM_000311.5

p.H69R

c.206A>G

1 paper

NM_000311.5

p.H69Y

c.205C>T