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.T183T

c.549A>G

Surrounding Variants

1 paper

NM_000311.5

p.T183T

c.549A>T

2 papers

NM_000311.5

p.I184V

c.550A>G

1 paper

NM_000311.5

p.T183_I184ins16

c.547_551ins48

157 papers

NM_000311.5

p.T183A

c.547A>G

1 paper

NM_000311.5

p.T183S

c.547A>T

2 papers

NM_000311.5

p.I182I

c.546C>A

1 paper

NM_000311.5

p.I182M

c.546C>G

2 papers

NM_000311.5

p.I182I

c.546C>T

1 paper

NM_000311.5

p.K185T

c.554A>C

1 paper

NM_000311.5

p.I182V

c.544A>G

1 paper

NM_000311.5

p.N181S

c.542A>G

2 papers

NM_000311.5

p.Q186*

c.556C>T