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

9 papers

NM_000243.3

p.L649P

c.1946T>C

Surrounding Variants

2 papers

NM_000243.3

p.L649F

c.1945C>T

1 paper

NM_000243.3

p.L649V

c.1945C>G

3 papers

NM_000243.3

p.S650Y

c.1949C>A

2 papers

NM_000243.3

p.R652C

c.1954C>T

5 papers

NM_000243.3

p.R652H

c.1955G>A

11 papers

NM_000243.3

p.P646L

c.1937C>T

37 papers

NM_000243.3

p.R653H

c.1958G>A

1 paper

NM_000243.3

p.S645F

c.1934C>T

1 paper

NM_000243.3

p.W655C

c.1965G>T

1 paper

NM_000243.3

p.W655C

c.1965G>C

5 papers

NM_000243.3

p.E656A

c.1967A>C

1 paper

NM_000243.3

p.V657L

c.1969G>T