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.G304Splc

c.910+1G>A

Surrounding Variants

23 papers

NM_000243.3

p.G304R

c.910G>A

1 paper

NM_000243.3

p.T303delFs

c.908delG

1 paper

NM_000243.3

p.T303I

c.908C>T

1 paper

NM_000243.3

p.V302V

c.906C>A

1 paper

NM_000243.3

p.H300Q

c.900T>G

1 paper

NM_000243.3

p.H300Q

c.900T>A

1 paper

NM_000243.3

p.H300D

c.898C>G

5 papers

NM_000243.3

p.E299G

c.896A>G

2 papers

NM_000243.3

p.E299K

c.895G>A

1 paper

NM_000243.3

p.P298R

c.893C>G

1 paper

NM_000243.3

p.G296A

c.887G>C

2 papers

NM_000243.3

p.D290D

c.870C>T