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.E713V

c.2138A>T

Surrounding Variants

1 paper

NM_000243.3

p.L710_I711delFs

c.2129_2132del4

3 papers

NM_000243.3

p.P715L

c.2144C>T

1 paper

NM_000243.3

p.P715R

c.2144C>G

1 paper

NM_000243.3

p.K716M

c.2147A>T

2 papers

NM_000243.3

p.R717C

c.2149C>T

11 papers

NM_000243.3

p.R717S

c.2149C>A

7 papers

NM_000243.3

p.L709R

c.2126T>G

3 papers

NM_000243.3

p.R717L

c.2150G>T

2 papers

NM_000243.3

p.R717H

c.2150G>A

2 papers

NM_000243.3

p.R708C

c.2122C>T

4 papers

NM_000243.3

p.P706P

c.2118G>A

1 paper

NM_000243.3

p.I720T

c.2159T>C