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.L372L

c.1114C>T

Surrounding Variants

1 paper

NM_000243.3

p.L372P

c.1115T>C

1 paper

NM_000243.3

p.P373A

c.1117C>G

1 paper

NM_000243.3

p.P371T

c.1111C>A

12 papers

NM_000243.3

p.P373L

c.1118C>T

2 papers

NM_000243.3

p.P373Q

c.1118C>A

1 paper

NM_000243.3

p.P369L

c.1106C>T

2 papers

NM_000243.3

p.P369R

c.1106C>G

1 paper

NM_000243.3

p.C375R

c.1123T>C

577 papers

NM_000243.3

p.P369S

c.1105C>T

1 paper

NM_000243.3

p.S368N

c.1103G>A

1 paper

NM_000243.3

p.K376R

c.1127A>G

1 paper

NM_000243.3

p.L367V

c.1099C>G