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

10 papers

NM_000243.3

p.P115R

c.344C>G

Surrounding Variants

4 papers

NM_000243.3

p.P115T

c.343C>A

1 paper

NM_000243.3

p.R116S

c.348G>T

1 paper

NM_000243.3

p.R116S

c.348G>C

1 paper

NM_000243.3

p.R116R

c.348G>A

1 paper

NM_000243.3

p.S117G

c.349A>G

2 papers

NM_000243.3

p.S117N

c.350G>A

1 paper

NM_000243.3

p.E112fs

c.334_335fs

1 paper

NM_000243.3

p.S117del1

c.349_351delGCT

1 paper

NM_000243.3

p.E112G

c.335A>G

1 paper

NM_000243.3

p.E112insFs

c.334_335insG

1 paper

NM_000243.3

p.E112K

c.334G>A

1 paper

NM_000243.3

p.G111V

c.332G>T