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.T96A

c.286A>G

Surrounding Variants

1 paper

NM_000243.3

p.T96T

c.288A>G

3 papers

NM_000243.3

p.Q97*

c.289C>T

6 papers

NM_000243.3

p.Q97K

c.289C>A

2 papers

NM_000243.3

p.Q97R

c.290A>G

1 paper

NM_000243.3

p.E93Q

c.277G>C

1 paper

NM_000243.3

p.E93Splc

c.278-1G>A

1 paper

NM_000243.3

p.N99N

c.297C>T

3 papers

NM_000243.3

p.G100D

c.299G>A

1 paper

NM_000243.3

p.E93Splc

c.278-6T>C

1 paper

NM_000243.3

p.T101I

c.302C>T

1 paper

NM_000243.3

p.D102Y

c.304G>T

10 papers

NM_000243.3

p.D102D

c.306T>C