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

1264 papers

NM_000243.3

p.E148Q

c.442G>C

Surrounding Variants

1 paper

NM_000243.3

p.P147insFs

c.441dupC

1 paper

NM_000243.3

p.E148K

c.442G>A

1 paper

NM_000243.3

p.E148fs

c.442_443fs

1 paper

NM_000243.3

p.P147P

c.441C>A

57 papers

NM_000243.3

p.E148V

c.443A>T

1 paper

NM_000243.3

p.E148G

c.443A>G

3 papers

NM_000243.3

p.E148D

c.444G>T

3 papers

NM_000243.3

p.E148D

c.444G>C

1 paper

NM_000243.3

p.P147H

c.440C>A

1 paper

NM_000243.3

p.A149G

c.446C>G

2 papers

NM_000243.3

p.G150R

c.448G>A

1 paper

NM_000243.3

p.Q146*

c.436C>T