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.P306T

c.916C>A

Surrounding Variants

1 paper

NM_000243.3

p.R305S

c.915G>C

103 papers

NM_000243.3

p.G304R

c.910G>C

104 papers

NM_000243.3

p.G304R

c.910G>A

7 papers

NM_000243.3

p.T309M

c.926C>T

1 paper

NM_000243.3

p.T309R

c.926C>G

2 papers

NM_000243.3

p.A310fs

c.928_929fs

2 papers

NM_000243.3

p.A310T

c.928G>A

1 paper

NM_000243.3

p.A310D

c.929C>A

1 paper

NM_000243.3

p.A311T

c.931G>A

1 paper

NM_000243.3

p.A311V

c.932C>T

1 paper

NM_000243.3

p.S312N

c.935G>A

1 paper

NM_000243.3

p.A310_S312delFs

c.928_935del8