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.I139K

c.416T>A

Surrounding Variants

2 papers

NM_000311.5

p.I139T

c.416T>C

2 papers

NM_000311.5

p.I139M

c.417A>G

1 paper

NM_000311.5

p.H140N

c.418C>A

7 papers

NM_000311.5

p.I138M

c.414C>G

4 papers

NM_000311.5

p.I138I

c.414C>T

2 papers

NM_000311.5

p.H140R

c.419A>G

1 paper

NM_000311.5

p.I138L

c.412A>C

1 paper

NM_000311.5

p.P137P

c.411C>T

2 papers

NM_000311.5

p.F141L

c.421T>C

2 papers

NM_000311.5

p.F141L

c.423C>A

2 papers

NM_000311.5

p.F141L

c.423C>G

1 paper

NM_000311.5

p.P137S

c.409C>T