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

4 papers

NM_001358530.2

p.Q85*

c.253C>T

Surrounding Variants

1 paper

NM_001358530.2

p.C84insFs

c.252dupT

3 papers

NM_001358530.2

p.C84_Q85insFs

c.252_253insC

3 papers

NM_001358530.2

p.C84F

c.251G>T

2 papers

NM_001358530.2

p.Y86D

c.256T>G

1 paper

NM_001358530.2

p.C84R

c.250T>C

1 paper

NM_001358530.2

p.M88I

c.264G>T

1 paper

NM_001358530.2

p.M88I

c.264G>C

1 paper

NM_001358530.2

p.M88I

c.264G>A

1 paper

NM_001358530.2

p.P89delins

c.265_266delinsCG

1 paper

NM_001358530.2

p.E90D

c.270G>T

1 paper

NM_001358530.2

p.E90D

c.270G>C

1 paper

NM_001358530.2

p.T96A

c.286A>G