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

4 papers

NM_000311.5

p.Q52H

c.156G>T

Surrounding Variants

4 papers

NM_000311.5

p.Q52H

c.156G>C

6 papers

NM_000311.5

p.Q52P

c.155A>C

1 paper

NM_000311.5

p.Q52R

c.155A>G

1 paper

NM_000311.5

p.G53S

c.157G>A

1 paper

NM_000311.5

p.G53R

c.157G>C

1 paper

NM_000311.5

p.Q52*

c.154C>T

1 paper

NM_000311.5

p.Q75_P76ins8

c.225_226ins24

1 paper

NM_000311.5

p.G53G

c.159C>T

7 papers

NM_000311.5

p.P68_P76del0

c.204_227del24

1 paper

NM_000311.5

p.P51L

c.152C>T

24 papers

NM_000311.5

p.G54S

c.160G>A

1 paper

NM_000311.5

p.G55_G62ins2

c.165_185dup21