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.R80R

c.240C>T

Surrounding Variants

2 papers

NM_000243.3

p.R80H

c.239G>A

1 paper

NM_000243.3

p.R80C

c.238C>T

1 paper

NM_000243.3

p.Q79delFs

c.235delG

64 papers

NM_000243.3

p.E84K

c.250G>A

1 paper

NM_000243.3

p.A76A

c.228C>T

1 paper

NM_000243.3

p.A76V

c.227C>T

1 paper

NM_000243.3

p.R75Q

c.224G>A

1 paper

NM_000243.3

p.L86P

c.257T>C

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.L74L

c.222G>A

1 paper

NM_000243.3

p.H87R

c.260A>G