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.L528delFs

c.1582delG

Surrounding Variants

1 paper

NM_000243.3

p.L527F

c.1579C>T

1 paper

NM_000243.3

p.E526V

c.1577A>T

1 paper

NM_000243.3

p.E526G

c.1577A>G

1 paper

NM_000243.3

p.Q529_D530Splc

c.1587+7G>A

1 paper

NM_000243.3

p.E524Q

c.1570G>C

1 paper

NM_000243.3

p.Q529_D530Splc

c.1587+18C>T

1 paper

NM_000243.3

p.K519E

c.1555A>G

1 paper

NM_000243.3

p.A518A

c.1554C>G

1 paper

NM_000243.3

p.Q529_D530Splc

c.1587+29G>T

1 paper

NM_000243.3

p.Q529_D530Splc

c.1587+33C>G

1 paper

NM_000243.3

p.E515G

c.1544A>G

3 papers

NM_000243.3

p.G514E

c.1541G>A