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.L379L

c.1137G>C

Surrounding Variants

1 paper

NM_000243.3

p.R377_H378delFs

c.1129_1133del5

1 paper

NM_000243.3

p.H378H

c.1134C>T

1 paper

NM_000243.3

p.H378Q

c.1134C>G

1 paper

NM_000243.3

p.H378Q

c.1134C>A

1 paper

NM_000243.3

p.H378Y

c.1132C>T

1 paper

NM_000243.3

p.H378D

c.1132C>G

1 paper

NM_000243.3

p.R377H

c.1130G>A

1 paper

NM_000243.3

p.V382D

c.1145T>A

1 paper

NM_000243.3

p.R377fs

c.1129_1130fs

1 paper

NM_000243.3

p.V382V

c.1146C>T

2 papers

NM_000243.3

p.Q383K

c.1147C>A

1 paper

NM_000243.3

p.K376R

c.1127A>G