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

4 papers

NM_000243.3

p.P705S

c.2113C>T

Surrounding Variants

3 papers

NM_000243.3

p.P705T

c.2113C>A

1 paper

NM_000243.3

p.V704G

c.2111T>G

7 papers

NM_000243.3

p.V704I

c.2110G>A

1 paper

NM_000243.3

p.P706L

c.2117C>T

1 paper

NM_000243.3

p.S703I

c.2108G>T

4 papers

NM_000243.3

p.P706P

c.2118G>A

1 paper

NM_000243.3

p.S702F

c.2105C>T

7 papers

NM_000243.3

p.S702C

c.2105C>G

2 papers

NM_000243.3

p.R708C

c.2122C>T

1 paper

NM_000243.3

p.A701A

c.2103G>A

2 papers

NM_000243.3

p.A701V

c.2102C>T

1 paper

NM_000243.3

p.A701P

c.2101G>C