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.K101E

c.301A>G

Surrounding Variants

1 paper

NM_000311.5

p.K101*

c.301A>T

6 papers

NM_000311.5

p.K101R

c.302A>G

3 papers

NM_000311.5

p.K101K

c.303G>A

1 paper

NM_000311.5

p.N100D

c.298A>G

1 paper

NM_000311.5

p.P102A

c.304C>G

1 paper

NM_000311.5

p.P102S

c.304C>T

1 paper

NM_000311.5

p.P102R

c.305C>G

505 papers

NM_000311.5

p.P102L

c.305C>T

2 papers

NM_000311.5

p.W99*

c.297G>A

1 paper

NM_000311.5

p.W99C

c.297G>C

1 paper

NM_000311.5

p.W99C

c.297G>T

2 papers

NM_000311.5

p.W99*

c.296G>A