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

12 papers

NM_000311.5

p.E211D

c.633G>C

Surrounding Variants

12 papers

NM_000311.5

p.E211D

c.633G>T

1 paper

NM_000311.5

p.Q212E

c.634C>G

93 papers

NM_000311.5

p.Q212P

c.635A>C

4 papers

NM_000311.5

p.Q212R

c.635A>G

47 papers

NM_000311.5

p.E211K

c.631G>A

81 papers

NM_000311.5

p.E211Q

c.631G>C

1 paper

NM_000311.5

p.Q212Q

c.636G>A

5 papers

NM_000311.5

p.Q212H

c.636G>C

5 papers

NM_000311.5

p.Q212H

c.636G>T

3 papers

NM_000311.5

p.M213L

c.637A>C

3 papers

NM_000311.5

p.M213L

c.637A>T

3 papers

NM_000311.5

p.V210A

c.629T>C