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.V252L

c.754G>T

Surrounding Variants

1 paper

NM_000311.5

p.V252L

c.754G>C

1 paper

NM_000311.5

p.G253R

c.757G>A

1 paper

NM_000311.5

p.L250M

c.748C>A

1 paper

NM_000311.5

p.L250V

c.748C>G

1 paper

NM_000311.5

p.*254R

c.760T>C

1 paper

NM_000311.5

p.F249V

c.745T>G

1 paper

NM_000311.5

p.S245F

c.734C>T

1 paper

NM_000311.5

p.I244F

c.730A>T

1 paper

NM_000311.5

p.L243R

c.728T>G

1 paper

NM_000311.5

p.I241S

c.722T>G

1 paper

NM_000311.5

p.I241delFs

c.723delC

1 paper

NM_000311.5

p.P239P

c.717T>A