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

1 paper

NM_000311.5

p.L9P

c.26T>C

Surrounding Variants

11 papers

NM_000311.5

p.L9R

c.26T>G

2 papers

NM_000311.5

p.V10A

c.29T>C

1 paper

NM_000311.5

p.M8L

c.22A>T

1 paper

NM_000311.5

p.L11I

c.31C>A

2 papers

NM_000311.5

p.W7*

c.20G>A

2 papers

NM_000311.5

p.C6C

c.18C>T

1 paper

NM_000311.5

p.C6S

c.17G>C

1 paper

NM_000311.5

p.C6F

c.17G>T

1 paper

NM_000311.5

p.C6S

c.16T>A

1 paper

NM_000311.5

p.F12L

c.36T>A

1 paper

NM_000311.5

p.F12F

c.36T>C

1 paper

NM_000311.5

p.G5G

c.15C>A