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.A106V

c.317C>T

Surrounding Variants

1 paper

NM_000243.3

p.A106S

c.316G>T

2 papers

NM_000243.3

p.A106T

c.316G>A

1 paper

NM_000243.3

p.A105V

c.314C>T

2 papers

NM_000243.3

p.A105E

c.314C>A

1 paper

NM_000243.3

p.A105T

c.313G>A

1 paper

NM_000243.3

p.S107S

c.321C>A

1 paper

NM_000243.3

p.S108G

c.322A>G

15 papers

NM_000243.3

p.S108R

c.322A>C

2 papers

NM_000243.3

p.S104C

c.311C>G

15 papers

NM_000243.3

p.S108R

c.324C>G

15 papers

NM_000243.3

p.S108R

c.324C>A

1 paper

NM_000243.3

p.D103Y

c.307G>T