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

5 papers

NM_000311.5

p.G124G

c.372C>G

Surrounding Variants

1 paper

NM_000311.5

p.G124G

c.372C>T

1 paper

NM_000311.5

p.L125F

c.373C>T

1 paper

NM_000311.5

p.G124A

c.371G>C

1 paper

NM_000311.5

p.G124S

c.370G>A

1 paper

NM_000311.5

p.G124C

c.370G>T

1 paper

NM_000311.5

p.G123A

c.368G>C

2 papers

NM_000311.5

p.G123R

c.367G>A

1 paper

NM_000311.5

p.G126D

c.377G>A

3 papers

NM_000311.5

p.G126A

c.377G>C

8 papers

NM_000311.5

p.G126V

c.377G>T

32 papers

NM_000311.5

p.G127S

c.379G>A

1 paper

NM_000311.5

p.V122A

c.365T>C