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.L396F

c.1186C>T

Surrounding Variants

1 paper

NM_000243.3

p.C395F

c.1184G>T

1 paper

NM_000243.3

p.C395Y

c.1184G>A

1 paper

NM_000243.3

p.C395R

c.1183T>C

1 paper

NM_000243.3

p.C398Y

c.1193G>A

1 paper

NM_000243.3

p.P393P

c.1179C>T

1 paper

NM_000243.3

p.E392E

c.1176G>A

1 paper

NM_000243.3

p.E392*

c.1174G>T

1 paper

NM_000243.3

p.L400insFs

c.1198_1199insT

3 papers

NM_000243.3

p.D391N

c.1171G>A

1 paper

NM_000243.3

p.S401N

c.1202G>A

2 papers

NM_000243.3

p.H390D

c.1168C>G

1 paper

NM_000243.3

p.H390_D391ins9

c.1168_1172ins27