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

34 papers

NM_000311.5

p.P105T

c.313C>A

Surrounding Variants

2 papers

NM_000311.5

p.P105A

c.313C>G

27 papers

NM_000311.5

p.P105S

c.313C>T

190 papers

NM_000311.5

p.P105L

c.314C>T

4 papers

NM_000311.5

p.K104K

c.312G>A

1 paper

NM_000311.5

p.K104N

c.312G>C

1 paper

NM_000311.5

p.P105P

c.315A>G

11 papers

NM_000311.5

p.P105P

c.315A>T

2 papers

NM_000311.5

p.K104E

c.310A>G

1 paper

NM_000311.5

p.K104*

c.310A>T

1 paper

NM_000311.5

p.S103N

c.308G>A

1 paper

NM_000311.5

p.T107P

c.319A>C

3 papers

NM_000311.5

p.T107I

c.320C>T