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

5 papers

NM_000311.5

p.N173S

c.518A>G

Surrounding Variants

3 papers

NM_000311.5

p.N173T

c.518A>C

1 paper

NM_000311.5

p.N173H

c.517A>C

7 papers

NM_000311.5

p.N173K

c.519C>A

7 papers

NM_000311.5

p.N173K

c.519C>G

1 paper

NM_000311.5

p.N174Y

c.520A>T

22 papers

NM_000311.5

p.N174T

c.521A>C

7 papers

NM_000311.5

p.N174S

c.521A>G

5 papers

NM_000311.5

p.Q172R

c.515A>G

1 paper

NM_000311.5

p.Q172L

c.515A>T

1 paper

NM_000311.5

p.Q172E

c.514C>G

1 paper

NM_000311.5

p.N174N

c.522C>T

1 paper

NM_000311.5

p.N171T

c.512A>C