Varaico: Literature-Extracted Genetic Variants

CLUH

17p13.3 (UCSC)OMIM GTEx

49 papers

Pfam Domains

CLU_Naa 66–139UCSCMitochondrial function, CLU-N-term

CLU_Naa 104–177UCSCMitochondrial function, CLU-N-term

CLUaa 356–576UCSCClustered mitochondria

eIF3_p135aa 766–948UCSCTranslation initiation factor eIF3 subunit 135

eIF3_p135aa 805–987UCSCTranslation initiation factor eIF3 subunit 135

TPR_12aa 1017–1090UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

CLUH binding protein of NUMT mRNA

HGNC Previous Symbol

KIAA0664

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001366661.1

p.G1024A

c.3071G>C

Surrounding Variants

1 paper

NM_001366661.1

p.L1033L

c.3099G>A

1 paper

NM_001366661.1

p.E1035K

c.3103G>A

1 paper

NM_001366661.1

p.K983N

c.2949G>C

1 paper

NM_001366661.1

p.I972delFs

c.2916delG

1 paper

NM_001366661.1

p.V958M

c.2872G>A

1 paper

NM_001366661.1

p.P892delFs

c.2674delG

1 paper

NM_001366661.1

p.E872K

c.2614G>A

1 paper

NM_001366661.1

p.S859S

c.2577G>T

1 paper

NM_001366661.1

p.E1137A

c.3410A>C

1 paper

NM_001366661.1

p.Y1159_D1160insFs

c.3477_3478ins10

1 paper

NM_001366661.1

p.L1163insFs

c.3488_3489ins10

1 paper

NM_001366661.1

p.A1171S

c.3511G>T