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

2 papers

NM_001358530.2

p.R343*

c.1027C>T

Surrounding Variants

1 paper

NM_001358530.2

p.L342P

c.1025T>C

2 papers

NM_001358530.2

p.R339_D340delFs

c.1015_1018del4

1 paper

NM_001358530.2

p.R339fs

c.1015_1016fs

1 paper

NM_001358530.2

p.R339Q

c.1016G>A

2 papers

NM_001358530.2

p.R339W

c.1015C>T

1 paper

NM_001358530.2

p.S334fs

c.1000_1001fs

3 papers

NM_001358530.2

p.S334insFs

c.1000dupT

9 papers

NM_001358530.2

p.I355T

c.1064T>C

1 paper

NM_001358530.2

p.K327_V328Splc

c.982-1G>A

1 paper

NM_001358530.2

p.K362R

c.1085A>G

1 paper

NM_001358530.2

p.R364Q

c.1091G>A

2 papers

NM_001358530.2

p.G368Splc

c.1102+1G>T