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

2 papers

NM_000311.5

p.S36S

c.108C>T

Surrounding Variants

3 papers

NM_000311.5

p.R37*

c.109C>T

1 paper

NM_000311.5

p.S36C

c.106A>T

2 papers

NM_000311.5

p.R37P

c.110G>C

2 papers

NM_000311.5

p.R37R

c.111A>T

1 paper

NM_000311.5

p.G35A

c.104G>C

2 papers

NM_000311.5

p.Y38C

c.113A>G

1 paper

NM_000311.5

p.G35R

c.103G>C

1 paper

NM_000311.5

p.G35fs

c.103_104fs

1 paper

NM_000311.5

p.G35fs

c.103_104fs

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