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.A140P

c.418G>C

Surrounding Variants

1 paper

NM_000243.3

p.A139insFs

c.417dupT

1 paper

NM_000243.3

p.A139_A140insFs

c.417_418insC

1 paper

NM_000243.3

p.A140A

c.420C>G

3 papers

NM_000243.3

p.A139D

c.416C>A

3 papers

NM_000243.3

p.A139P

c.415G>C

1 paper

NM_000243.3

p.G138delFs

c.414delT

1 paper

NM_000243.3

p.S141R

c.421A>C

6 papers

NM_000243.3

p.S141I

c.422G>T

1 paper

NM_000243.3

p.S141insFs

c.421dupA

1 paper

NM_000243.3

p.S141T

c.422G>C

9 papers

NM_000243.3

p.G138G

c.414A>G

1 paper

NM_000243.3

p.G138A

c.413G>C