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

124 papers

NM_000243.3

p.E167D

c.501G>C

Surrounding Variants

124 papers

NM_000243.3

p.E167D

c.501G>T

2 papers

NM_000243.3

p.E167A

c.500A>C

1 paper

NM_000243.3

p.G168G

c.504C>T

5 papers

NM_000243.3

p.S166L

c.497C>T

1 paper

NM_000243.3

p.L169V

c.505C>G

1 paper

NM_000243.3

p.L169M

c.505C>A

10 papers

NM_000243.3

p.A165A

c.495C>A

1 paper

NM_000243.3

p.A165V

c.494C>T

1 paper

NM_000243.3

p.A165T

c.493G>A

1 paper

NM_000243.3

p.K164T

c.491A>C

1 paper

NM_000243.3

p.A171G

c.512C>G

2 papers

NM_000243.3

p.E163D

c.489G>T