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

5 papers

NM_000311.5

p.A116P

c.346G>C

Surrounding Variants

1 paper

NM_000311.5

p.A116T

c.346G>A

3 papers

NM_000311.5

p.A116E

c.347C>A

15 papers

NM_000311.5

p.A116G

c.347C>G

41 papers

NM_000311.5

p.A116V

c.347C>T

1 paper

NM_000311.5

p.A115G

c.344C>G

3 papers

NM_000311.5

p.A115V

c.344C>T

1 paper

NM_000311.5

p.A117T

c.349G>A

1 paper

NM_000311.5

p.A115P

c.343G>C

1 paper

NM_000311.5

p.A117P

c.349G>C

1 paper

NM_000311.5

p.A115fs

c.343_344fs

2 papers

NM_000311.5

p.A117S

c.349G>T

1 paper

NM_000311.5

p.A115S

c.343G>T