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.E685V

c.2054A>T

Surrounding Variants

2 papers

NM_000243.3

p.E685K

c.2053G>A

1 paper

NM_000243.3

p.G687V

c.2060G>T

1 paper

NM_000243.3

p.G687A

c.2060G>C

3 papers

NM_000243.3

p.G687D

c.2060G>A

1 paper

NM_000243.3

p.S683L

c.2048C>T

2 papers

NM_000243.3

p.Y688F

c.2063A>T

7 papers

NM_000243.3

p.Y688C

c.2063A>G

1 paper

NM_000243.3

p.L682L

c.2044C>T

20 papers

NM_000243.3

p.Y688*

c.2064C>G

20 papers

NM_000243.3

p.Y688*

c.2064C>A

1 paper

NM_000243.3

p.W689R

c.2065T>C

1 paper

NM_000243.3

p.W689R

c.2065T>A