Varaico: Literature-Extracted Genetic Variants

MOCOS

304 papers

RefSeq Summary

This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion...

Pfam Domains

Aminotran_5aa 50–481UCSCAminotransferase class-V

MOSC_Naa 582–701UCSCMOSC N-terminal beta barrel domain

MOSCaa 716–865UCSCMOSC domain

Gene Aliases

HGNC Name

molybdenum cofactor sulfurase

HGNC Alias Symbols

HMCS; FLJ20733; MCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017947.4

p.T76S

c.226A>T

Surrounding Variants

1 paper

NM_017947.4

p.Y77D

c.229T>G

2 papers

NM_017947.4

p.G78C

c.232G>T

1 paper

NM_017947.4

p.D71V

c.212A>T

1 paper

NM_017947.4

p.L65H

c.194T>A

1 paper

NM_017947.4

p.F60Y

c.179T>A

1 paper

NM_017947.4

p.A57T

c.169G>A

4 papers

NM_017947.4

p.A57P

c.169G>C

1 paper

NM_017947.4

p.H54L

c.161A>T

1 paper

NM_017947.4

p.D53A

c.158A>C

1 paper

NM_017947.4

p.T49S

c.145A>T

1 paper

NM_017947.4

p.G78Splc

c.232+146C>A

1 paper

NM_017947.4

p.G78Splc

c.233-46C>A