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

3 papers

NM_000243.3

p.D505G

c.1514A>G

Surrounding Variants

1 paper

NM_000243.3

p.D505Y

c.1513G>T

2 papers

NM_000243.3

p.I506V

c.1516A>G

2 papers

NM_000243.3

p.I506I

c.1518C>T

1 paper

NM_000243.3

p.S503F

c.1508C>T

58 papers

NM_000243.3

p.S503C

c.1508C>G

1 paper

NM_000243.3

p.L508V

c.1522C>G

2 papers

NM_000243.3

p.L508Q

c.1523T>A

5 papers

NM_000243.3

p.R501R

c.1503C>T

4 papers

NM_000243.3

p.R501H

c.1502G>A

3 papers

NM_000243.3

p.R501C

c.1501C>T

3 papers

NM_000243.3

p.R501G

c.1501C>G

8 papers

NM_000243.3

p.D510N

c.1528G>A