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.A54V

c.161C>T

Surrounding Variants

1 paper

NM_001366661.1

p.G63G

c.189G>A

1 paper

NM_001366661.1

p.A67delFs

c.199delC

1 paper

NM_001366661.1

p.Q105delFs

c.313delG

1 paper

NM_001366661.1

p.L129_H130insFs

c.387_388ins14

1 paper

NM_001366661.1

p.H130insFs

c.388_389ins8

1 paper

NM_001366661.1

p.D132N

c.394G>A

1 paper

NM_001366661.1

p.H169Y

c.505C>T

1 paper

NM_001366661.1

p.G188W

c.562G>T

1 paper

NM_001366661.1

p.T201I

c.602C>T

1 paper

NM_001366661.1

p.G214D

c.641G>A

1 paper

NM_001366661.1

p.W247*

c.740G>A

1 paper

NM_001366661.1

p.L256F

c.766C>T