Varaico: Literature-Extracted Genetic Variants

MOCS1

139 papers

RefSeq Summary

Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thoug...

Pfam Domains

Radical_SAMaa 3–149UCSCRadical SAM superfamily

Fer4_12aa 72–194UCSC4Fe-4S single cluster domain

Mob_synth_Caa 154–281UCSCMolybdenum Cofactor Synthesis C

MoaCaa 493–628UCSCMoaC family

Gene Aliases

HGNC Name

molybdenum cofactor synthesis 1

HGNC Alias Symbols

MOCOD; MOCS1A; MOCS1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001358530.2

p.L241delFs

c.721delG

Surrounding Variants

3 papers

NM_001358530.2

p.L241fs

c.721_722fs

4 papers

NM_001358530.2

p.L241delFs

c.722delA

1 paper

NM_001358530.2

p.L241fs

c.721_722fs

2 papers

NM_001358530.2

p.L239H

c.716T>A

1 paper

NM_001358530.2

p.R244H

c.731G>A

2 papers

NM_001358530.2

p.A233V

c.698C>T

1 paper

NM_001358530.2

p.P250S

c.748C>T

2 papers

NM_001358530.2

p.E228_D231del0

c.684_692del9

1 paper

NM_001358530.2

p.G253Splc

c.757+1G>C

6 papers

NM_001358530.2

p.G223ins1

c.667_668insCGA

5 papers

NM_001358530.2

p.R222_G223ins1

c.666_667insCGA

1 paper

NM_001358530.2

p.R222*

c.664C>T