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

1–12 of 159 variants

16 papers

NM_001358530.2

p.R73W

c.217C>T

12 papers

NM_001358530.2

p.G126D

c.377G>A

11 papers

NM_001358530.2

p.G324E

c.971G>A

10 papers

NM_001358530.2

p.R319Q

c.956G>A

9 papers

NM_001358530.2

p.A140Splc

c.418+1G>A

9 papers

NM_001358530.2

p.I355T

c.1064T>C

6 papers

NM_001358530.2

p.G223ins1

c.667_668insCGA

6 papers

NM_001358530.2

p.G324R

c.970G>C

6 papers

NM_001358530.2

p.G324R

c.970G>A

6 papers

NM_001358530.2

p.G368Splc

c.1102+1G>A

6 papers

NM_001358530.2

p.Q446delFs

c.1338delC

5 papers

NM_001358530.2

p.R67W

c.199C>T