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

2 papers

NM_001358530.2

p.G588R

c.1762G>C

Surrounding Variants

3 papers

NM_001358530.2

p.G588R

c.1762G>A

2 papers

NM_001358530.2

p.A593T

c.1777G>A

1 paper

NM_001358530.2

p.T595P

c.1783A>C

1 paper

NM_001358530.2

p.L604P

c.1811T>C

1 paper

NM_001358530.2

p.C608fs

c.1822_1823fs

1 paper

NM_001358530.2

p.R613_I615Fs

c.1838_1843delinsCCFs

1 paper

NM_001358530.2

p.A543E

c.1628C>A

1 paper

NM_001358530.2

p.Q542fs

c.1624_1625fs

1 paper

NM_001358530.2

p.A508delFs

c.1523_1524delAG

2 papers

NM_001358530.2

p.R504W

c.1510C>T

1 paper

NM_001358530.2

p.E503delFs

c.1508_1509delCT

1 paper

NM_001358530.2

p.E503fs

c.1507_1508fs