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

16 papers

NM_000243.3

p.I720M

c.2160C>G

Surrounding Variants

1 paper

NM_000243.3

p.I720T

c.2159T>C

1 paper

NM_000243.3

p.F721Y

c.2162T>A

19 papers

NM_000243.3

p.V722M

c.2164G>A

3 papers

NM_000243.3

p.R717L

c.2150G>T

2 papers

NM_000243.3

p.R717H

c.2150G>A

2 papers

NM_000243.3

p.R717C

c.2149C>T

11 papers

NM_000243.3

p.R717S

c.2149C>A

1 paper

NM_000243.3

p.K716M

c.2147A>T

1 paper

NM_000243.3

p.V726I

c.2176G>A

3 papers

NM_000243.3

p.P715L

c.2144C>T

1 paper

NM_000243.3

p.P715R

c.2144C>G

1 paper

NM_000243.3

p.V726G

c.2177T>G