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.V726G

c.2177T>G

Surrounding Variants

1170 papers

NM_000243.3

p.V726A

c.2177T>C

1 paper

NM_000243.3

p.V726V

c.2178T>C

1 paper

NM_000243.3

p.V726I

c.2176G>A

1 paper

NM_000243.3

p.S728G

c.2182A>G

3 papers

NM_000243.3

p.I729V

c.2185A>G

1 paper

NM_000243.3

p.S728delFs

c.2184delG

4 papers

NM_000243.3

p.I729M

c.2187C>G

1 paper

NM_000243.3

p.S730C

c.2189C>G

19 papers

NM_000243.3

p.V722M

c.2164G>A

1 paper

NM_000243.3

p.F731V

c.2191T>G

1 paper

NM_000243.3

p.F721Y

c.2162T>A

1 paper

NM_000243.3

p.Y732D

c.2194T>G