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

7 papers

NM_000311.5

p.M109I

c.327G>T

Surrounding Variants

7 papers

NM_000311.5

p.M109I

c.327G>A

7 papers

NM_000311.5

p.M109I

c.327G>C

2 papers

NM_000311.5

p.M109K

c.326T>A

1 paper

NM_000311.5

p.M109T

c.326T>C

2 papers

NM_000311.5

p.M109L

c.325A>C

2 papers

NM_000311.5

p.M109L

c.325A>T

1 paper

NM_000311.5

p.K110N

c.330G>C

1 paper

NM_000311.5

p.N108S

c.323A>G

1 paper

NM_000311.5

p.N108I

c.323A>T

1 paper

NM_000311.5

p.H111D

c.331C>G

1 paper

NM_000311.5

p.N108D

c.322A>G

2 papers

NM_000311.5

p.T107T

c.321C>T