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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TIMM10B

Variant:p.C52F

TIMM10B

10 papers

RefSeq Summary

FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import ...

Pfam Domains

zf-Tim10_DDPaa 3–69UCSCTim10/DDP family zinc finger

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 10B

HGNC Previous Symbol

FXC1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:6482064 G>T

NM_012192.4

p.C52F

c.155G>T

zf-Tim10_DDP

exact variant not in gnomAD8 overlapping SVs

Surrounding Variants

1 paper

chr11:6482099 A>C

NM_012192.4

p.M64L

c.190A>C

zf-Tim10_DDP

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=6, hom=0)8 overlapping SVs

1 paper

chr11:6482099 A>T

NM_012192.4

p.M64L

c.190A>T

zf-Tim10_DDP

exact variant not in gnomAD8 overlapping SVs

1 paper

chr11:6482105 G>T

NM_012192.4

p.A66S

c.196G>T

zf-Tim10_DDP

Exome: 0.1% (AC=1590, hom=21)Genome: 0.7% (AC=1022, hom=12)8 overlapping SVs

1 paper

chr11:6482166 C>T

NM_012192.4

p.S86L

c.257C>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)8 overlapping SVs

1 paper

chr11:6481550 C>A

NM_012192.4

p.R12R

c.34C>A

zf-Tim10_DDP

Exome: 18.2% (AC=265318, hom=25241)Genome: 18.1% (AC=27538, hom=2640)8 overlapping SVs

1 paper

chr11:6481540 ACAG>A

NM_012192.4

p.Q9del1

c.25_26delCAG

zf-Tim10_DDP

exact variant not in gnomAD8 overlapping SVs

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