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

3 papers

NM_000311.5

p.A118V

c.353C>T

Surrounding Variants

1 paper

NM_000311.5

p.A118P

c.352G>C

1 paper

NM_000311.5

p.A118S

c.352G>T

11 papers

NM_000311.5

p.A117A

c.351A>G

1 paper

NM_000311.5

p.G119R

c.355G>A

1 paper

NM_000311.5

p.G119R

c.355G>C

1 paper

NM_000311.5

p.A117E

c.350C>A

2 papers

NM_000311.5

p.A117G

c.350C>G

293 papers

NM_000311.5

p.A117V

c.350C>T

2 papers

NM_000311.5

p.G119A

c.356G>C

2 papers

NM_000311.5

p.G119G

c.357G>A

1 paper

NM_000311.5

p.A117T

c.349G>A

1 paper

NM_000311.5

p.A117P

c.349G>C