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.P588L

c.1763C>T

Surrounding Variants

6 papers

NM_000243.3

p.P588P

c.1764G>A

1 paper

NM_000243.3

p.V587Splc

c.1760-4G>A

112 papers

NM_000243.3

p.I591T

c.1772T>C

4 papers

NM_000243.3

p.I591M

c.1773T>G

1 paper

NM_000243.3

p.G592V

c.1775G>T

1 paper

NM_000243.3

p.G592A

c.1775G>C

2 papers

NM_001198536.2

p.R440H

c.1319G>A

NM_000243.3

p.A593T

c.1777G>A

1 paper

NM_000243.3

p.Q594*

c.1780C>T

4 papers

NM_000243.3

p.A595V

c.1784C>T

1 paper

NM_000243.3

p.H596Y

c.1786C>T

1 paper

NM_000243.3

p.H596Q

c.1788T>G

1 paper

NM_000243.3

p.H596Q

c.1788T>A