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.A54T

c.160G>A

Surrounding Variants

1 paper

NM_000243.3

p.M53I

c.159G>A

1 paper

NM_000243.3

p.M53T

c.158T>C

1 paper

NM_000243.3

p.A54A

c.162C>T

1 paper

NM_000243.3

p.T55insFs

c.163dupA

1 paper

NM_000243.3

p.T55T

c.165T>G

1 paper

NM_000243.3

p.T55delFs

c.165delA

1 paper

NM_000243.3

p.V51A

c.152T>C

1 paper

NM_000243.3

p.Q46Q

c.138G>A

3 papers

NM_000243.3

p.G62W

c.184G>T

1 paper

NM_000243.3

p.G62E

c.185G>A

1 paper

NM_000243.3

p.I45insFs

c.134_135insA

1 paper

NM_000243.3

p.G62G

c.186G>A