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.P254fs

c.760_761fs

Surrounding Variants

1 paper

NM_000243.3

p.P254T

c.760C>A

1 paper

NM_000243.3

p.P254P

c.762C>T

6 papers

NM_000243.3

p.A253insFs

c.758_759ins4

1 paper

NM_000243.3

p.A255insFs

c.764_765ins4

7 papers

NM_000243.3

p.N256fs

c.766_767fs

1 paper

NM_000243.3

p.N256fs

c.766_767fs

8 papers

NM_000243.3

p.E251K

c.751G>A

3 papers

NM_000243.3

p.P257L

c.770C>T

1 paper

NM_000243.3

p.G250A

c.749G>C

1 paper

NM_000243.3

p.G250E

c.749G>A

2 papers

NM_000243.3

p.G250R

c.748G>C

1 paper

NM_000243.3

p.G250R

c.748G>A