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.R202W

c.604C>T

Surrounding Variants

364 papers

NM_000243.3

p.R202Q

c.605G>A

1 paper

NM_000243.3

p.R202R

c.606G>A

3 papers

NM_000243.3

p.L203P

c.608T>C

2 papers

NM_000243.3

p.E200K

c.598G>A

3 papers

NM_000243.3

p.R204H

c.611G>A

1 paper

NM_000243.3

p.Q198_A199insFs

c.594_595insC

1 paper

NM_000243.3

p.Q198fs

c.592_593fs

1 paper

NM_000243.3

p.R205T

c.614G>C

1 paper

NM_000243.3

p.R205K

c.614G>A

1 paper

NM_000243.3

p.Q198L

c.593A>T

1 paper

NM_000243.3

p.Q198K

c.592C>A

1 paper

NM_000243.3

p.G197insFs

c.590dupG