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.A344P

c.1030G>C

Surrounding Variants

1 paper

NM_000243.3

p.Q343delFs

c.1029delC

1 paper

NM_000243.3

p.A344A

c.1032C>A

1 paper

NM_000243.3

p.Q343K

c.1027C>A

1 paper

NM_000243.3

p.P342P

c.1026C>G

1 paper

NM_000243.3

p.S347C

c.1039A>T

3 papers

NM_000243.3

p.G340R

c.1018G>C

3 papers

NM_000243.3

p.G340R

c.1018G>A

4 papers

NM_000243.3

p.R348H

c.1043G>A

18 papers

NM_000243.3

p.S339F

c.1016C>T

1 paper

NM_000243.3

p.S339P

c.1015T>C

1 paper

NM_000243.3

p.P350S

c.1048C>T

2 papers

NM_000243.3

p.P350L

c.1049C>T