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.K204Q

c.610A>C

Surrounding Variants

1 paper

NM_000311.5

p.K204E

c.610A>G

1 paper

NM_000311.5

p.K204N

c.612G>C

1 paper

NM_000311.5

p.K204N

c.612G>T

1 paper

NM_000311.5

p.V203A

c.608T>C

2 papers

NM_000311.5

p.V203G

c.608T>G

1 paper

NM_000311.5

p.M205L

c.613A>C

2 papers

NM_000311.5

p.M205V

c.613A>G

100 papers

NM_000311.5

p.V203I

c.607G>A

1 paper

NM_000311.5

p.V203L

c.607G>C

1 paper

NM_000311.5

p.D202D

c.606C>T

2 papers

NM_000311.5

p.M205R

c.614T>G

8 papers

NM_000311.5

p.D202G

c.605A>G