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.T190A

c.568A>G

Surrounding Variants

1 paper

NM_000311.5

p.V189A

c.566T>C

3 papers

NM_000311.5

p.T191P

c.571A>C

2 papers

NM_000311.5

p.T191A

c.571A>G

8 papers

NM_000311.5

p.V189I

c.565G>A

1 paper

NM_000311.5

p.V189fs

c.565_566fs

1 paper

NM_000311.5

p.T191I

c.572C>T

1 paper

NM_000311.5

p.T188T

c.564G>A

92 papers

NM_000311.5

p.T188K

c.563C>A

54 papers

NM_000311.5

p.T188R

c.563C>G

1 paper

NM_000311.5

p.T188M

c.563C>T

1 paper

NM_000311.5

p.V189delFs

c.565delG

44 papers

NM_000311.5

p.T188A

c.562A>G