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.V123M

c.367G>A

Surrounding Variants

1 paper

NM_005885.4

p.T128M

c.383C>T

1 paper

NM_005885.4

p.K116E

c.346A>G

1 paper

NM_005885.4

p.N138K

c.414T>A

1 paper

NM_005885.4

p.T151A

c.451A>G

1 paper

NM_005885.4

p.P182L

c.545C>T

1 paper

NM_005885.4

p.E192A

c.575A>C

1 paper

NM_005885.4

p.E201A

c.602A>C

1 paper

NM_005885.4

p.V203A

c.608T>C

1 paper

NM_005885.4

p.D206A

c.617A>C

1 paper

NM_005885.4

p.P211A

c.631C>G

1 paper

NM_005885.4

p.P212A

c.634C>G

1 paper

NM_005885.4

p.E214A

c.641A>C