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

2 papers

NM_000243.3

p.L69F

c.205C>T

Surrounding Variants

1 paper

NM_000243.3

p.Q68*

c.202C>T

1 paper

NM_000243.3

p.V67E

c.200T>A

2 papers

NM_000243.3

p.V67M

c.199G>A

5 papers

NM_000243.3

p.A66V

c.197C>T

1 paper

NM_000243.3

p.A66P

c.196G>C

1 paper

NM_000243.3

p.E64fs

c.190_191fs

1 paper

NM_000243.3

p.E64E

c.192G>A

1 paper

NM_000243.3

p.L74L

c.222G>A

1 paper

NM_000243.3

p.E63K

c.187G>A

1 paper

NM_000243.3

p.R75W

c.223C>T

1 paper

NM_000243.3

p.R75R

c.223C>A

1 paper

NM_000243.3

p.R75Q

c.224G>A