Varaico: Literature-Extracted Genetic Variants

MEFV

2,671 papers

RefSeq Summary

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodi...

Pfam Domains

PYRINaa 8–84UCSCPAAD/DAPIN/Pyrin domain

zf-B_boxaa 370–412UCSCB-box zinc finger

PRYaa 600–648UCSCSPRY-associated domain

SPRYaa 652–771UCSCSPRY domain

Gene Aliases

HGNC Name

MEFV innate immunity regulator, pyrin

HGNC Alias Symbols

FMF; TRIM20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000243.3

p.P124A

c.370C>G

Surrounding Variants

1 paper

NM_000243.3

p.H123H

c.369C>T

1 paper

NM_000243.3

p.P124P

c.372C>A

1 paper

NM_000243.3

p.D122H

c.364G>C

1 paper

NM_000243.3

p.G126R

c.376G>A

1 paper

NM_000243.3

p.G126V

c.377G>T

1 paper

NM_000243.3

p.P121S

c.361C>T

1 paper

NM_000243.3

p.T120I

c.359C>T

1 paper

NM_000243.3

p.E128Q

c.382G>C

1 paper

NM_000243.3

p.T120P

c.358A>C

1 paper

NM_000243.3

p.E128V

c.383A>T

1 paper

NM_000243.3

p.G129W

c.385G>T

1 paper

NM_000243.3

p.S117del1

c.349_351delGCT