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.P769A

c.2305C>G

Surrounding Variants

4 papers

NM_000243.3

p.I772V

c.2314A>G

2 papers

NM_000243.3

p.N766H

c.2296A>C

1 paper

NM_000243.3

p.G764G

c.2292G>T

1 paper

NM_000243.3

p.G764_K765ins4

c.2290_2294ins12

1 paper

NM_000243.3

p.P774L

c.2321C>T

450 papers

NM_000243.3

p.R761H

c.2282G>A

1 paper

NM_000243.3

p.G777fs

c.2329_2330fs

2 papers

NM_000243.3

p.R761C

c.2281C>T

6 papers

NM_000243.3

p.R761S

c.2281C>A

2 papers

NM_000243.3

p.G777insFs

c.2330dupG

2 papers

NM_000243.3

p.Q778fs

c.2332_2333fs

1 paper

NM_000243.3

p.G777delFs

c.2330_2331delAC