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

27 papers

NM_000243.3

p.M694L

c.2080A>C

Surrounding Variants

27 papers

NM_000243.3

p.M694L

c.2080A>T

1619 papers

NM_000243.3

p.M694V

c.2080A>G

9 papers

NM_000243.3

p.M694K

c.2081T>A

1 paper

NM_000243.3

p.M693I

c.2079G>T

1 paper

NM_000243.3

p.M693I

c.2079G>C

1 paper

NM_000243.3

p.M693I

c.2079G>A

202 papers

NM_000243.3

p.I692del1

c.2074_2075delTAT

2 papers

NM_000243.3

p.M693K

c.2078T>A

917 papers

NM_000243.3

p.M694I

c.2082G>T

915 papers

NM_000243.3

p.M694I

c.2082G>C

920 papers

NM_000243.3

p.M694I

c.2082G>A

1 paper

NM_000243.3

p.M694delins

c.2080_2082delinsGTA