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.Q475Q

c.1425G>A

Surrounding Variants

1 paper

NM_000243.3

p.Q476*

c.1426C>T

9 papers

NM_000243.3

p.E474E

c.1422G>A

NM_001198536.2

p.E263E

c.789G>A

12 papers

NM_000243.3

p.Q476Q

c.1428A>G

NM_001198536.2

p.Q265Q

c.795A>G

8 papers

NM_000243.3

p.E474K

c.1420G>A

1 paper

NM_000243.3

p.L473delFs

c.1418_1419delCA

1 paper

NM_000243.3

p.E477D

c.1431G>T

1 paper

NM_000243.3

p.E477D

c.1431G>C

55 papers

NM_000243.3

p.H478Y

c.1432C>T

278 papers

NM_000243.3

p.F479L

c.1435T>C

10 papers

NM_000243.3

p.F479I

c.1435T>A

280 papers

NM_000243.3

p.F479L

c.1437C>G

11 papers

NM_000243.3

p.Y471*

c.1413C>G