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.K25_F26delFs

c.75_76delAC

Surrounding Variants

3 papers

NM_000243.3

p.K25R

c.74A>G

1 paper

NM_000243.3

p.K25T

c.74A>C

1 paper

NM_000243.3

p.F24insFs

c.72dupC

1 paper

NM_000243.3

p.F24delFs

c.72delG

2 papers

NM_000243.3

p.L28L

c.82C>T

1 paper

NM_000243.3

p.F24S

c.71T>C

1 paper

NM_000243.3

p.L28_Q29insFs

c.84_85insG

7 papers

NM_000243.3

p.N30I

c.89A>T

1 paper

NM_000243.3

p.S32N

c.95G>A

4 papers

NM_000243.3

p.D20A

c.59A>C

3 papers

NM_000243.3

p.V33L

c.97G>T

3 papers

NM_000243.3

p.V33L

c.97G>C