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

2 papers

NM_000243.3

p.S749Y

c.2246C>A

Surrounding Variants

8 papers

NM_000243.3

p.S749C

c.2246C>G

1 paper

NM_000243.3

p.G750G

c.2250G>T

4 papers

NM_000243.3

p.P751L

c.2252C>T

1 paper

NM_000243.3

p.S747C

c.2240C>G

1 paper

NM_000243.3

p.L752F

c.2254C>T

1 paper

NM_000243.3

p.Q753H

c.2259A>T

1 paper

NM_000243.3

p.S745C

c.2233A>T

1 paper

NM_000243.3

p.Q753H

c.2259A>C

1 paper

NM_000243.3

p.P754R

c.2261C>G

1 paper

NM_000243.3

p.A744D

c.2231C>A

439 papers

NM_000243.3

p.A744S

c.2230G>T

2 papers

NM_000243.3

p.A744T

c.2230G>A