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.K618N

c.1854G>T

Surrounding Variants

1 paper

NM_000243.3

p.K618N

c.1854G>C

1 paper

NM_000243.3

p.K618M

c.1853A>T

1 paper

NM_000243.3

p.K618E

c.1852A>G

1 paper

NM_000243.3

p.K618_S619del2

c.1852_1856del6

1 paper

NM_000243.3

p.D616V

c.1847A>T

1 paper

NM_000243.3

p.D616N

c.1846G>A

1 paper

NM_000243.3

p.S614F

c.1841C>T

1 paper

NM_000243.3

p.G623V

c.1868G>T

1 paper

NM_000243.3

p.L611H

c.1832T>A

10 papers

NM_000243.3

p.E627G

c.1880A>G

1 paper

NM_000243.3

p.E627delFs

c.1879delC

2 papers

NM_000243.3

p.E627fs

c.1879_1880fs