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.M129K

c.386T>A

Surrounding Variants

1 paper

NM_000311.5

p.M129T

c.386T>C

3 papers

NM_000311.5

p.M129L

c.385A>C

345 papers

NM_000311.5

p.M129V

c.385A>G

3 papers

NM_000311.5

p.M129L

c.385A>T

2 papers

NM_000311.5

p.L130insFs

c.388dupC

3 papers

NM_000311.5

p.Y128Y

c.384C>T

1 paper

NM_000311.5

p.Y128_G131insFs

c.384_391dup8

1 paper

NM_000311.5

p.Y128C

c.383A>G

1 paper

NM_000311.5

p.Y128F

c.383A>T

1 paper

NM_000311.5

p.Y128N

c.382T>A

1 paper

NM_000311.5

p.Y128delFs

c.382_383delTA

3 papers

NM_000311.5

p.G131R

c.391G>A