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.A14A

c.42C>T

Surrounding Variants

1 paper

NM_000311.5

p.A14T

c.40G>A

1 paper

NM_000311.5

p.A14_T15insT

c.40_44ins3

2 papers

NM_000311.5

p.T15T

c.45A>T

2 papers

NM_000311.5

p.V13V

c.39G>T

2 papers

NM_000311.5

p.V13M

c.37G>A

2 papers

NM_000311.5

p.W16*

c.47G>A

1 paper

NM_000311.5

p.V13L

c.37G>C

1 paper

NM_000311.5

p.W16S

c.47G>C

1 paper

NM_000311.5

p.V13L

c.37G>T

1 paper

NM_000311.5

p.W16L

c.47G>T

2 papers

NM_000311.5

p.W16*

c.48G>A

1 paper

NM_000311.5

p.F12L

c.36T>A