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.T12delFs

c.35delG

Surrounding Variants

1 paper

NM_000243.3

p.L13V

c.37C>G

1 paper

NM_000243.3

p.E14Q

c.40G>C

2 papers

NM_000243.3

p.T12I

c.35C>T

1 paper

NM_000243.3

p.S6_T12delFs

c.16_34del19

4 papers

NM_000243.3

p.S11S

c.33C>G

1 paper

NM_000243.3

p.E14insFs

c.42dupG

3 papers

NM_000243.3

p.S11P

c.31T>C

1 paper

NM_000243.3

p.L16P

c.47T>C

1 paper

NM_000243.3

p.L10P

c.29T>C

1 paper

NM_000243.3

p.M1_L9delFs

c.1_26del26

1 paper

NM_000243.3

p.L9Q

c.26T>A

1 paper

NM_000243.3

p.V17V

c.51G>A