Varaico: Literature-Extracted Genetic Variants

MARCHF6

51 papers

RefSeq Summary

This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an importa...

Pfam Domains

RINGvaa 9–55UCSCRING-variant domain

MARCHF6_Caa 703–878UCSCE3 ubiquitin-protein ligase MARCHF6-like, C-terminal domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 6

HGNC Previous Symbol

MARCH6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005885.4

p.E19A

c.56A>C

Surrounding Variants

1 paper

NM_005885.4

p.E15A

c.44A>C

1 paper

NM_005885.4

p.V11A

c.32T>C

2 papers

NM_005885.4

p.C39S

c.115T>A

2 papers

NM_005885.4

p.C39S

c.116G>C

1 paper

NM_005885.4

p.Y51N

c.151T>A

1 paper

NM_005885.4

p.D68A

c.203A>C

1 paper

NM_005885.4

p.D77A

c.230A>C

1 paper

NM_005885.4

p.A80A

c.240T>A

1 paper

NM_005885.4

p.V83I

c.247G>A

1 paper

NM_005885.4

p.I90_R91del1

c.270_272delACG

1 paper

NM_005885.4

p.K116E

c.346A>G

1 paper

NM_005885.4

p.V123M

c.367G>A