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

22 papers

NM_000311.5

p.P39L

c.116C>T

Surrounding Variants

3 papers

NM_000311.5

p.P39T

c.115C>A

1 paper

NM_000311.5

p.P39A

c.115C>G

1 paper

NM_000311.5

p.P39S

c.115C>T

1 paper

NM_000311.5

p.P39P

c.117G>A

3 papers

NM_000311.5

p.G40R

c.118G>A

2 papers

NM_000311.5

p.Y38C

c.113A>G

4 papers

NM_000311.5

p.G40E

c.119G>A

1 paper

NM_000311.5

p.G40A

c.119G>C

1 paper

NM_000311.5

p.G40G

c.120G>A

2 papers

NM_000311.5

p.R37R

c.111A>T

3 papers

NM_000311.5

p.Q41*

c.121C>T

1 paper

NM_000311.5

p.Q41P

c.122A>C