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

6 papers

NM_001358530.2

p.G324R

c.970G>A

Surrounding Variants

1 paper

NM_001358530.2

p.G324W

c.970G>T

6 papers

NM_001358530.2

p.G324R

c.970G>C

11 papers

NM_001358530.2

p.G324E

c.971G>A

10 papers

NM_001358530.2

p.R319Q

c.956G>A

3 papers

NM_001358530.2

p.R319*

c.955C>T

1 paper

NM_001358530.2

p.L318Q

c.953T>A

5 papers

NM_001358530.2

p.R317C

c.949C>T

1 paper

NM_001358530.2

p.A291S

c.871G>T

1 paper

NM_001358530.2

p.R272insFs

c.814_815insA

2 papers

NM_001358530.2

p.L268P

c.803T>C

1 paper

NM_001358530.2

p.K260T

c.779A>C

1 paper

NM_001358530.2

p.K259N

c.777G>T