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

3 papers

NM_000311.5

p.M112I

c.336G>A

Surrounding Variants

3 papers

NM_000311.5

p.M112I

c.336G>C

3 papers

NM_000311.5

p.M112I

c.336G>T

22 papers

NM_000311.5

p.M112T

c.335T>C

3 papers

NM_000311.5

p.M112V

c.334A>G

2 papers

NM_000311.5

p.A113V

c.338C>T

2 papers

NM_000311.5

p.H111H

c.333C>T

1 paper

NM_000311.5

p.A113A

c.339T>C

1 paper

NM_000311.5

p.G114C

c.340G>T

1 paper

NM_000311.5

p.H111D

c.331C>G

3 papers

NM_000311.5

p.G114A

c.341G>C

91 papers

NM_000311.5

p.G114V

c.341G>T

1 paper

NM_000311.5

p.G114_A118delFs

c.342_354del13