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

1048 papers

NM_000243.3

p.M680I

c.2040G>A

Surrounding Variants

1048 papers

NM_000243.3

p.M680I

c.2040G>T

1049 papers

NM_000243.3

p.M680I

c.2040G>C

25 papers

NM_000243.3

p.T681I

c.2042C>T

33 papers

NM_000243.3

p.M680L

c.2038A>T

17 papers

NM_000243.3

p.M680V

c.2038A>G

33 papers

NM_000243.3

p.M680L

c.2038A>C

1 paper

NM_000243.3

p.L682L

c.2044C>T

4 papers

NM_000243.3

p.N679H

c.2035A>C

20 papers

NM_000243.3

p.G678E

c.2033G>A

1 paper

NM_000243.3

p.G678R

c.2032G>C

1 paper

NM_000243.3

p.G678R

c.2032G>A

1 paper

NM_000243.3

p.S683L

c.2048C>T