Varaico: Literature-Extracted Genetic Variants

Gene:MEFV

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
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
1–12 of 899 variants
1619 papers
NM_000243.3
p.M694V
c.2080A>G
1264 papers
NM_000243.3
p.E148Q
c.442G>C
1170 papers
NM_000243.3
p.V726A
c.2177T>C
1049 papers
NM_000243.3
p.M680I
c.2040G>C
1048 papers
NM_000243.3
p.M680I
c.2040G>T
1048 papers
NM_000243.3
p.M680I
c.2040G>A
920 papers
NM_000243.3
p.M694I
c.2082G>A
917 papers
NM_000243.3
p.M694I
c.2082G>T
915 papers
NM_000243.3
p.M694I
c.2082G>C
577 papers
NM_000243.3
p.P369S
c.1105C>T
459 papers
NM_000243.3
p.K695R
c.2084A>G
450 papers
NM_000243.3
p.R761H
c.2282G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."