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.T249A

c.745A>G

Surrounding Variants

1 paper

NM_000243.3

p.T249I

c.746C>T

2 papers

NM_000243.3

p.G250R

c.748G>C

1 paper

NM_000243.3

p.G250R

c.748G>A

1 paper

NM_000243.3

p.G250A

c.749G>C

1 paper

NM_000243.3

p.G250E

c.749G>A

8 papers

NM_000243.3

p.E251K

c.751G>A

3 papers

NM_000243.3

p.I247V

c.739A>G

1 paper

NM_000243.3

p.I247L

c.739A>C

1 paper

NM_000243.3

p.T246T

c.738C>G

2 papers

NM_000243.3

p.T246I

c.737C>T

1 paper

NM_000243.3

p.T246N

c.737C>A

2 papers

NM_000243.3

p.E244D

c.732G>T