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.A416D

c.1247C>A

Surrounding Variants

1 paper

NM_000243.3

p.A416V

c.1247C>T

1 paper

NM_000243.3

p.A416T

c.1246G>A

1 paper

NM_000243.3

p.L417_E418insC

c.1249_1253ins3

1 paper

NM_000243.3

p.P411S

c.1231C>T

8 papers

NM_000243.3

p.R410H

c.1229G>A

1 paper

NM_000243.3

p.K420_K421Splc

c.1260+10C>T

2 papers

NM_000243.3

p.R408L

c.1223G>T

295 papers

NM_000243.3

p.R408Q

c.1223G>A

3 papers

NM_000243.3

p.R408W

c.1222C>T

1 paper

NM_000243.3

p.R408G

c.1222C>G

1 paper

NM_000243.3

p.H407Q

c.1221C>G

1 paper

NM_000243.3

p.H407Q

c.1221C>A