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

1 paper

NM_000311.5

p.Q59*

c.175C>T

Surrounding Variants

1 paper

NM_000311.5

p.G58G

c.174G>A

1 paper

NM_000311.5

p.G58E

c.173G>A

1 paper

NM_000311.5

p.G58A

c.173G>C

1 paper

NM_000311.5

p.G58V

c.173G>T

1 paper

NM_000311.5

p.Q59H

c.177G>T

5 papers

NM_000311.5

p.P60T

c.178C>A

1 paper

NM_000311.5

p.P60_H61ins6

c.178_182ins18

1 paper

NM_000311.5

p.P60_H61ins12

c.178_182ins36

2 papers

NM_000311.5

p.G58R

c.172G>A

1 paper

NM_000311.5

p.G58R

c.172G>C

2 papers

NM_000311.5

p.G58W

c.172G>T

13 papers

NM_000311.5

p.P60H

c.179C>A