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.I740V

c.2218A>G

Surrounding Variants

1 paper

NM_000243.3

p.H739delFs

c.2216_2217delGT

2 papers

NM_000243.3

p.H739P

c.2216A>C

1 paper

NM_000243.3

p.H739N

c.2215C>A

1 paper

NM_000243.3

p.Y741C

c.2222A>G

1 paper

NM_000243.3

p.T742R

c.2225C>G

1 paper

NM_000243.3

p.R737I

c.2210G>T

2 papers

NM_000243.3

p.R737K

c.2210G>A

10 papers

NM_000243.3

p.F743L

c.2227T>C

2 papers

NM_000243.3

p.F743S

c.2228T>C

1 paper

NM_000243.3

p.F743Y

c.2228T>A

1 paper

NM_000243.3

p.F743F

c.2229C>T

10 papers

NM_000243.3

p.F743L

c.2229C>G