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.G30A

c.89G>C

Surrounding Variants

1 paper

NM_000311.5

p.G30_W31insFs

c.90_91ins4

1 paper

NM_000311.5

p.W31*

c.92G>A

1 paper

NM_000311.5

p.G29A

c.86G>C

8 papers

NM_000311.5

p.W31*

c.93G>A

2 papers

NM_000311.5

p.W31C

c.93G>C

1 paper

NM_000311.5

p.P28_G29insFs

c.84_85insGG

2 papers

NM_000311.5

p.T33A

c.97A>G

1 paper

NM_000311.5

p.K27R

c.80A>G

2 papers

NM_000311.5

p.K27M

c.80A>T

1 paper

NM_000311.5

p.K27insFs

c.79_80insC

2 papers

NM_000311.5

p.K27E

c.79A>G

1 paper

NM_000311.5

p.G34R

c.100G>A