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.V180L

c.538G>C

Surrounding Variants

221 papers

NM_000311.5

p.V180I

c.538G>A

1 paper

NM_000311.5

p.V180_N181ins4

c.538_542ins12

1 paper

NM_000311.5

p.V180F

c.538G>T

1 paper

NM_000311.5

p.C179C

c.537C>T

1 paper

NM_000311.5

p.V180A

c.539T>C

3 papers

NM_000311.5

p.C179S

c.536G>C

4 papers

NM_000311.5

p.N181D

c.541A>G

3 papers

NM_000311.5

p.C179S

c.535T>A

1 paper

NM_000311.5

p.N181S

c.542A>G

2 papers

NM_000311.5

p.D178A

c.533A>C

5 papers

NM_000311.5

p.D178V

c.533A>T

1 paper

NM_000311.5

p.D178_C179delFs

c.534_535delCT