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

1 paper

NM_000243.3

p.E336K

c.1006G>A

Surrounding Variants

1 paper

NM_000243.3

p.F334_P335insG

c.1000_1004ins3

1 paper

NM_000243.3

p.S339P

c.1015T>C

18 papers

NM_000243.3

p.S339F

c.1016C>T

3 papers

NM_000243.3

p.G340R

c.1018G>C

3 papers

NM_000243.3

p.G340R

c.1018G>A

2 papers

NM_000243.3

p.D330A

c.989A>C

1 paper

NM_000243.3

p.D330N

c.988G>A

22 papers

NM_000243.3

p.R329H

c.986G>A

1 paper

NM_000243.3

p.P342P

c.1026C>G

1 paper

NM_000243.3

p.R329C

c.985C>T

1 paper

NM_000243.3

p.Q343K

c.1027C>A

3 papers

NM_000243.3

p.V328A

c.983T>C