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.S230S

c.690G>A

Surrounding Variants

2 papers

NM_000311.5

p.S231R

c.691A>C

2 papers

NM_000311.5

p.S230*

c.689C>A

1 paper

NM_000311.5

p.S230L

c.689C>T

2 papers

NM_000311.5

p.S231T

c.692G>C

1 paper

NM_000311.5

p.G229G

c.687A>G

1 paper

NM_000311.5

p.M232V

c.694A>G

1 paper

NM_000311.5

p.G229A

c.686G>C

2 papers

NM_000311.5

p.G229*

c.685G>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.R228S

c.684A>C

1 paper

NM_000311.5

p.R228R

c.684A>G