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.Q446delFs

c.1338delC

Surrounding Variants

1 paper

NM_001358530.2

p.Q446R

c.1337A>G

1 paper

NM_001358530.2

p.F445_H448del4

c.1333_1343del12

5 papers

NM_001358530.2

p.S442fs

c.1324_1325fs

2 papers

NM_001358530.2

p.Q438insFs

c.1313_1314insG

1 paper

NM_001358530.2

p.A436insFs

c.1306_1307ins5

1 paper

NM_001358530.2

p.S463I

c.1388G>T

1 paper

NM_001358530.2

p.S415_S418del0

c.1245_1253del9

1 paper

NM_001358530.2

p.H406Y

c.1216C>T

1 paper

NM_001358530.2

p.G489*

c.1465G>T

1 paper

NM_001358530.2

p.G489R

c.1465G>C

1 paper

NM_001358530.2

p.G489R

c.1465G>A

1 paper

NM_001358530.2

p.R490Q

c.1469G>A