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

2 papers

NM_000311.5

p.Q75L

c.224A>T

Surrounding Variants

2 papers

NM_000311.5

p.Q75*

c.223C>T

2 papers

NM_000311.5

p.Q75fs

c.223_224fs

1 paper

NM_000311.5

p.P76_H77del2

c.226_230del6

2 papers

NM_000311.5

p.P76_P84del9

c.226_251del27

1 paper

NM_000311.5

p.P76insFs

c.227_228ins4

2 papers

NM_000311.5

p.Q75_G82del8

c.223_245del24

1 paper

NM_000311.5

p.Q75_Q83delFs

c.223_247del25

2 papers

NM_000311.5

p.P76P

c.228C>T

2 papers

NM_000311.5

p.G82_G90del0

c.246_269del24

1 paper

NM_000311.5

p.G74R

c.220G>A

1 paper

NM_000311.5

p.H77Y

c.229C>T

1 paper

NM_000311.5

p.W73C

c.219G>C