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.Y232*

c.696C>G

Surrounding Variants

1 paper

NM_000243.3

p.Y232*

c.696C>A

1 paper

NM_000243.3

p.Y232H

c.694T>C

1 paper

NM_000243.3

p.Y232N

c.694T>A

5 papers

NM_000243.3

p.E230Q

c.688G>C

55 papers

NM_000243.3

p.E230K

c.688G>A

1 paper

NM_000243.3

p.S235L

c.704C>T

1 paper

NM_000243.3

p.G236R

c.706G>A

2 papers

NM_000243.3

p.G236V

c.707G>T

1 paper

NM_000243.3

p.P228L

c.683C>T

2 papers

NM_000243.3

p.K237*

c.709A>T

1 paper

NM_000243.3

p.C226Y

c.677G>A

1 paper

NM_000243.3

p.R239Q

c.716G>A