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

16 papers

NM_000311.5

p.V209M

c.625G>A

Surrounding Variants

2 papers

NM_000311.5

p.V209L

c.625G>C

2 papers

NM_000311.5

p.V209L

c.625G>T

1 paper

NM_000311.5

p.V209A

c.626T>C

120 papers

NM_000311.5

p.R208H

c.623G>A

22 papers

NM_000311.5

p.R208C

c.622C>T

224 papers

NM_000311.5

p.V210I

c.628G>A

2 papers

NM_000311.5

p.V210L

c.628G>C

3 papers

NM_000311.5

p.V210F

c.628G>T

3 papers

NM_000311.5

p.V210A

c.629T>C

47 papers

NM_000311.5

p.E211K

c.631G>A

1 paper

NM_000311.5

p.E207K

c.619G>A

81 papers

NM_000311.5

p.E211Q

c.631G>C