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

10 papers

NM_000243.3

p.T177I

c.530C>T

Surrounding Variants

2 papers

NM_000243.3

p.T177A

c.529A>G

1 paper

NM_000243.3

p.R178W

c.532C>T

9 papers

NM_000243.3

p.S179I

c.536G>T

8 papers

NM_000243.3

p.S179N

c.536G>A

2 papers

NM_000243.3

p.P175H

c.524C>A

1 paper

NM_000243.3

p.P180S

c.538C>T

2 papers

NM_000243.3

p.P180L

c.539C>T

7 papers

NM_000243.3

p.P180R

c.539C>G

1 paper

NM_000243.3

p.P180P

c.540G>T

1 paper

NM_000243.3

p.A181S

c.541G>T

1 paper

NM_000243.3

p.L182L

c.544C>T

1 paper

NM_000243.3

p.L182M

c.544C>A