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

3 papers

NM_000311.5

p.Y169F

c.506A>T

Surrounding Variants

5 papers

NM_000311.5

p.Y169*

c.507C>A

5 papers

NM_000311.5

p.Y169*

c.507C>G

1 paper

NM_000311.5

p.Y169Y

c.507C>T

1 paper

NM_000311.5

p.Y169N

c.505T>A

1 paper

NM_000311.5

p.Y169H

c.505T>C

1 paper

NM_000311.5

p.S170G

c.508A>G

32 papers

NM_000311.5

p.S170N

c.509G>A

1 paper

NM_000311.5

p.S170S

c.510C>T

3 papers

NM_000311.5

p.E168Q

c.502G>C

1 paper

NM_000311.5

p.N171T

c.512A>C

62 papers

NM_000311.5

p.N171S

c.512A>G

11 papers

NM_000311.5

p.D167G

c.500A>G