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

15 papers

NM_000243.3

p.S108R

c.324C>A

Surrounding Variants

15 papers

NM_000243.3

p.S108R

c.324C>G

1 paper

NM_000243.3

p.S108G

c.322A>G

15 papers

NM_000243.3

p.S108R

c.322A>C

1 paper

NM_000243.3

p.S107S

c.321C>A

187 papers

NM_000243.3

p.L110P

c.329T>C

1 paper

NM_000243.3

p.L110L

c.330G>T

6 papers

NM_000243.3

p.L110L

c.330G>A

1 paper

NM_000243.3

p.G111W

c.331G>T

1 paper

NM_000243.3

p.G111R

c.331G>C

2 papers

NM_000243.3

p.G111R

c.331G>A

1 paper

NM_000243.3

p.A106V

c.317C>T

1 paper

NM_000243.3

p.G111V

c.332G>T