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.D880A

c.2639A>C

Surrounding Variants

1 paper

NM_005885.4

p.E875A

c.2624A>C

1 paper

NM_005885.4

p.E840A

c.2519A>C

1 paper

NM_005885.4

p.G836Splc

c.2506+4C>T

1 paper

NM_005885.4

p.Y825C

c.2474A>G

1 paper

NM_005885.4

p.C822W

c.2466T>G

1 paper

NM_005885.4

p.K881_Y882insFs

c.2643_2644ins10

1 paper

NM_005885.4

p.Y882fs

c.2644_2645fs

1 paper

NM_005885.4

p.V884A

c.2651T>C

1 paper

NM_005885.4

p.K808_V816del9

c.2422_2447del27

1 paper

NM_005885.4

p.R807C

c.2419C>T

1 paper

NM_005885.4

p.V889A

c.2666T>C

1 paper

NM_005885.4

p.E892A

c.2675A>C