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.A1171S

c.3511G>T

Surrounding Variants

1 paper

NM_001366661.1

p.V1172I

c.3514G>A

1 paper

NM_001366661.1

p.Y1176C

c.3527A>G

1 paper

NM_001366661.1

p.L1163insFs

c.3488_3489ins10

1 paper

NM_001366661.1

p.Y1159_D1160insFs

c.3477_3478ins10

1 paper

NM_015229.4

p.V1183L

c.3547G>C

1 paper

NM_001366661.1

p.A1185P

c.3553G>C

1 paper

NM_001366661.1

p.E1137A

c.3410A>C

1 paper

NM_001366661.1

p.V1194V

c.3582C>T

2 papers

NM_001366661.1

p.E1231K

c.3691G>A

1 paper

NM_001366661.1

p.S1256R

c.3766A>C

1 paper

NM_001366661.1

p.S1256R

c.3768C>G

1 paper

NM_001366661.1

p.S1256R

c.3768C>A