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

10 papers

NM_000311.5

p.E200D

c.600G>C

Surrounding Variants

10 papers

NM_000311.5

p.E200D

c.600G>T

1 paper

NM_000311.5

p.T201_D202insC

c.601_605ins3

2 papers

NM_000311.5

p.E200A

c.599A>C

26 papers

NM_000311.5

p.E200G

c.599A>G

3 papers

NM_000311.5

p.T201S

c.601A>T

3 papers

NM_000311.5

p.T201S

c.602C>G

1 paper

NM_000311.5

p.T201I

c.602C>T

652 papers

NM_000311.5

p.E200K

c.598G>A

2 papers

NM_000311.5

p.E200Q

c.598G>C

1 paper

NM_000311.5

p.E200*

c.598G>T

1 paper

NM_000311.5

p.T201T

c.603C>T

2 papers

NM_000311.5

p.T199N

c.596C>A