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.T193S

c.577A>T

Surrounding Variants

2 papers

NM_000311.5

p.T193A

c.577A>G

1 paper

NM_000311.5

p.T193S

c.578C>G

20 papers

NM_000311.5

p.T193I

c.578C>T

6 papers

NM_000311.5

p.T192T

c.576C>T

7 papers

NM_000311.5

p.K194E

c.580A>G

1 paper

NM_000311.5

p.T192A

c.574A>G

1 paper

NM_000311.5

p.K194R

c.581A>G

1 paper

NM_000311.5

p.T191I

c.572C>T

3 papers

NM_000311.5

p.T191P

c.571A>C

2 papers

NM_000311.5

p.T191A

c.571A>G

1 paper

NM_000311.5

p.G195R

c.583G>A

1 paper

NM_000311.5

p.G195R

c.583G>C