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.D18E

c.54C>A

Surrounding Variants

1 paper

NM_000311.5

p.D18E

c.54C>G

4 papers

NM_000311.5

p.D18G

c.53A>G

23 papers

NM_000311.5

p.D18V

c.53A>T

1 paper

NM_000311.5

p.D18_L21delFs

c.54_61del8

1 paper

NM_000311.5

p.D18N

c.52G>A

2 papers

NM_000311.5

p.S17R

c.51T>A

3 papers

NM_000311.5

p.S17R

c.51T>G

1 paper

NM_000311.5

p.S17N

c.50G>A

1 paper

NM_000311.5

p.G20S

c.58G>A

1 paper

NM_000311.5

p.S17T

c.50G>C

1 paper

NM_000311.5

p.G20R

c.58G>C

1 paper

NM_000311.5

p.G20C

c.58G>T