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.G211A

c.632G>C

Surrounding Variants

9 papers

NM_000243.3

p.G211E

c.632G>A

1 paper

NM_000243.3

p.A210V

c.629C>T

1 paper

NM_000243.3

p.A210T

c.628G>A

1 paper

NM_000243.3

p.L213P

c.638T>C

1 paper

NM_000243.3

p.S209C

c.626C>G

4 papers

NM_000243.3

p.S209A

c.625T>G

15 papers

NM_000243.3

p.S208T

c.623G>C

1 paper

NM_000243.3

p.S208N

c.623G>A

1 paper

NM_000243.3

p.Q214R

c.641A>G

1 paper

NM_000243.3

p.S208fs

c.622_623fs

16 papers

NM_000243.3

p.S208C

c.622A>T

1 paper

NM_000243.3

p.R202_A207insFs

c.606_621dup16