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.A274delFs

c.821delG

Surrounding Variants

1 paper

NM_000243.3

p.A274V

c.821C>T

1 paper

NM_000243.3

p.S273S

c.819G>A

1 paper

NM_000243.3

p.E276Q

c.826G>C

2 papers

NM_000243.3

p.S273L

c.818C>T

1 paper

NM_000243.3

p.S273A

c.817T>G

1 paper

NM_000243.3

p.D272fs

c.814_815fs

1 paper

NM_000243.3

p.E276D

c.828A>T

1 paper

NM_000243.3

p.E276D

c.828A>C

1 paper

NM_000243.3

p.P277S

c.829C>T

1 paper

NM_000243.3

p.P277T

c.829C>A

2 papers

NM_000243.3

p.R278P

c.833G>C

1 paper

NM_000243.3

p.R278Q

c.833G>A