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.E360E

c.1080A>G

Surrounding Variants

1 paper

NM_000243.3

p.R361T

c.1082G>C

1 paper

NM_000243.3

p.R361K

c.1082G>A

1 paper

NM_000243.3

p.S363S

c.1089C>T

1 paper

NM_000243.3

p.D357G

c.1070A>G

3 papers

NM_000243.3

p.P364L

c.1091C>T

1 paper

NM_000243.3

p.S366S

c.1098C>T

4 papers

NM_000243.3

p.R354Q

c.1061G>A

1 paper

NM_000243.3

p.L367V

c.1099C>G

12 papers

NM_000243.3

p.R354W

c.1060C>T

1 paper

NM_000243.3

p.P353P

c.1059C>G

1 paper

NM_000243.3

p.P353L

c.1058C>T

1 paper

NM_000243.3

p.S368N

c.1103G>A