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.L234I

c.700C>A

Surrounding Variants

1 paper

NM_000311.5

p.L234V

c.700C>G

2 papers

NM_000311.5

p.L234F

c.700C>T

1 paper

NM_000311.5

p.V233V

c.699C>T

38 papers

NM_000311.5

p.M232T

c.695T>C

134 papers

NM_000311.5

p.M232R

c.695T>G

1 paper

NM_000311.5

p.M232V

c.694A>G

1 paper

NM_000311.5

p.S236T

c.706T>A

1 paper

NM_000311.5

p.S236F

c.707C>T

2 papers

NM_000311.5

p.S231T

c.692G>C

2 papers

NM_000311.5

p.S231R

c.691A>C

1 paper

NM_000311.5

p.S237T

c.709T>A

2 papers

NM_000311.5

p.S237F

c.710C>T