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.P132P

c.396T>A

Surrounding Variants

1 paper

NM_000243.3

p.R133W

c.397C>T

1 paper

NM_000243.3

p.R133G

c.397C>G

1 paper

NM_000243.3

p.G131G

c.393C>G

1 paper

NM_000243.3

p.P134L

c.401C>T

2 papers

NM_000243.3

p.N130N

c.390C>T

1 paper

NM_000243.3

p.N130K

c.390C>G

1 paper

NM_000243.3

p.N130_G131ins3

c.390_391ins9

1 paper

NM_000243.3

p.N130K

c.390C>A

1 paper

NM_000243.3

p.Y135D

c.403T>G

1 paper

NM_000243.3

p.Y135H

c.403T>C

1 paper

NM_000243.3

p.N130T

c.389A>C

1 paper

NM_000243.3

p.Y135Y

c.405C>T