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

2 papers

NM_001366661.1

p.G591S

c.1771G>A

Surrounding Variants

1 paper

NM_001366661.1

p.I593N

c.1778T>A

1 paper

NM_001366661.1

p.G619S

c.1855G>A

1 paper

NM_001366661.1

p.E625K

c.1873G>A

1 paper

NM_001366661.1

p.E535Q

c.1603G>C

1 paper

NM_001366661.1

p.I525V

c.1573A>G

1 paper

NM_001366661.1

p.A499V

c.1496C>T

1 paper

NM_001366661.1

p.A483V

c.1448C>T

1 paper

NM_001366661.1

p.Y474C

c.1421A>G

1 paper

NM_001366661.1

p.N442insFs

c.1324_1325insG

1 paper

NM_001366661.1

p.L674Q

c.2021T>A

1 paper

NM_001366661.1

p.A724V

c.2171C>T

1 paper

NM_001366661.1

p.G727D

c.2180G>A