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.Q223E

c.667C>G

Surrounding Variants

1 paper

NM_000243.3

p.Q223R

c.668A>G

1 paper

NM_000243.3

p.Q223H

c.669G>T

1 paper

NM_000243.3

p.Q223H

c.669G>C

1 paper

NM_000243.3

p.G222A

c.665G>C

2 papers

NM_000243.3

p.G222R

c.664G>C

2 papers

NM_000243.3

p.G222R

c.664G>A

1 paper

NM_000243.3

p.P221P

c.663G>C

1 paper

NM_000243.3

p.K224R

c.671A>G

1 paper

NM_000243.3

p.P221L

c.662C>T

1 paper

NM_000243.3

p.P221R

c.662C>G

5 papers

NM_000243.3

p.E225K

c.673G>A

4 papers

NM_000243.3

p.E225G

c.674A>G