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

2 papers

NM_000311.5

p.G93C

c.277G>T

Surrounding Variants

2 papers

NM_000311.5

p.G93R

c.277G>C

6 papers

NM_000311.5

p.G93A

c.278G>C

1 paper

NM_000311.5

p.G92E

c.275G>A

2 papers

NM_000311.5

p.G92*

c.274G>T

1 paper

NM_000311.5

p.G94D

c.281G>A

3 papers

NM_000311.5

p.G94G

c.282C>T

1 paper

NM_000311.5

p.Q91*

c.271C>T

1 paper

NM_000311.5

p.T95N

c.284C>A

2 papers

NM_000311.5

p.T95T

c.285C>T

2 papers

NM_000311.5

p.H96Y

c.286C>T

1 paper

NM_000311.5

p.G90S

c.268G>A

3 papers

NM_000311.5

p.G90insFs

c.268_269insC