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.H177L

c.530A>T

Surrounding Variants

2 papers

NM_000311.5

p.H177R

c.530A>G

1 paper

NM_000311.5

p.H177N

c.529C>A

2 papers

NM_000311.5

p.H177H

c.531C>T

586 papers

NM_000311.5

p.D178N

c.532G>A

5 papers

NM_000311.5

p.D178fs

c.532_533fs

2 papers

NM_000311.5

p.D178A

c.533A>C

5 papers

NM_000311.5

p.D178V

c.533A>T

1 paper

NM_000311.5

p.D178_C179delFs

c.534_535delCT

20 papers

NM_000311.5

p.V176G

c.527T>G

1 paper

NM_000311.5

p.V176M

c.526G>A

3 papers

NM_000311.5

p.C179S

c.535T>A

1 paper

NM_000311.5

p.F175F

c.525T>C