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.R148C

c.442C>T

Surrounding Variants

1 paper

NM_000311.5

p.D147D

c.441C>T

46 papers

NM_000311.5

p.R148H

c.443G>A

2 papers

NM_000311.5

p.D147A

c.440A>C

5 papers

NM_000311.5

p.D147N

c.439G>A

1 paper

NM_000311.5

p.Y149N

c.445T>A

1 paper

NM_000311.5

p.Y149F

c.446A>T

1 paper

NM_000311.5

p.E146D

c.438G>C

1 paper

NM_000311.5

p.E146D

c.438G>T

6 papers

NM_000311.5

p.E146G

c.437A>G

1 paper

NM_000311.5

p.E146K

c.436G>A

1 paper

NM_000311.5

p.E146Q

c.436G>C

56 papers

NM_000311.5

p.Y145*

c.435T>A