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.C191S

c.572G>C

Surrounding Variants

1 paper

NM_000243.3

p.C191delFs

c.571delA

2 papers

NM_000243.3

p.G189_P190ins0

c.565_570dup6

1 paper

NM_000243.3

p.C191fs

c.571_572fs

2 papers

NM_000243.3

p.R192G

c.574A>G

2 papers

NM_000243.3

p.A193V

c.578C>T

2 papers

NM_000243.3

p.G189S

c.565G>A

2 papers

NM_000243.3

p.L194P

c.581T>C

1 paper

NM_000243.3

p.E195K

c.583G>A

2 papers

NM_000243.3

p.S187N

c.560G>A

1 paper

NM_000243.3

p.E195D

c.585G>T

1 paper

NM_000243.3

p.E195D

c.585G>C

24 papers

NM_000243.3

p.G196W

c.586G>T