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

450 papers

NM_000243.3

p.R761H

c.2282G>A

Surrounding Variants

2 papers

NM_000243.3

p.R761C

c.2281C>T

6 papers

NM_000243.3

p.R761S

c.2281C>A

1 paper

NM_000243.3

p.G764_K765ins4

c.2290_2294ins12

1 paper

NM_000243.3

p.G764G

c.2292G>T

5 papers

NM_000243.3

p.P758S

c.2272C>T

1 paper

NM_000243.3

p.P758_G759ins4

c.2272_2276ins12

1 paper

NM_000243.3

p.S757I

c.2270G>T

1 paper

NM_000243.3

p.S757T

c.2270G>C

2 papers

NM_000243.3

p.N766H

c.2296A>C

2 papers

NM_000243.3

p.I755V

c.2263A>G

1 paper

NM_000243.3

p.P754R

c.2261C>G

1 paper

NM_000243.3

p.P769A

c.2305C>G