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

3 papers

NM_000243.3

p.S159N

c.476G>A

Surrounding Variants

5 papers

NM_000243.3

p.L158L

c.472C>T

1 paper

NM_000243.3

p.R161G

c.481C>G

1 paper

NM_000243.3

p.E163K

c.487G>A

2 papers

NM_000243.3

p.R155T

c.464G>C

4 papers

NM_000243.3

p.E163A

c.488A>C

2 papers

NM_000243.3

p.E163D

c.489G>T

2 papers

NM_000243.3

p.E163D

c.489G>C

1 paper

NM_000243.3

p.S154W

c.461C>G

1 paper

NM_000243.3

p.K164T

c.491A>C

9 papers

NM_000243.3

p.S154P

c.460T>C

1 paper

NM_000243.3

p.S154T

c.460T>A

1 paper

NM_000243.3

p.L153L

c.459G>T