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.G63D

c.188G>A

Surrounding Variants

1 paper

NM_000311.5

p.G64S

c.190G>A

1 paper

NM_000311.5

p.G62G

c.186T>A

3 papers

NM_000311.5

p.G64D

c.191G>A

1 paper

NM_000311.5

p.G62D

c.185G>A

1 paper

NM_000311.5

p.G64G

c.192C>T

154 papers

NM_000311.5

p.H61Q

c.183T>A

2 papers

NM_000311.5

p.W65R

c.193T>A

1 paper

NM_000311.5

p.H61H

c.183T>C

1 paper

NM_000311.5

p.H61_G62insFs

c.183_184ins16

2 papers

NM_000311.5

p.W65*

c.194G>A

2 papers

NM_000311.5

p.H61Y

c.181C>T

1 paper

NM_000311.5

p.W65*

c.195G>A