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

16 papers

NM_001358530.2

p.R73W

c.217C>T

Surrounding Variants

2 papers

NM_001358530.2

p.R73Q

c.218G>A

2 papers

NM_001358530.2

p.F65_Y71del0

c.195_212del18

5 papers

NM_001358530.2

p.R67W

c.199C>T

1 paper

NM_001358530.2

p.K79T

c.236A>C

3 papers

NM_001358530.2

p.C80G

c.238T>G

2 papers

NM_001358530.2

p.R83K

c.248G>A

1 paper

NM_001358530.2

p.C84R

c.250T>C

1 paper

NM_001358530.2

p.L61P

c.182T>C

1 paper

NM_001358530.2

p.C84Splc

c.250+3G>A

1 paper

NM_001358530.2

p.P56_F57delFs

c.168_169delAG

1 paper

NM_001358530.2

p.R47insFs

c.140dupG

2 papers

NM_001358530.2

p.R46R

c.136C>A