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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MICU1

Variant:p.T214N

MICU1

94 papers

RefSeq Summary

This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2...

Pfam Domains

EF-hand_5aa 223–247UCSCEF hand

EF-hand_8aa 393–446UCSCEF-hand domain pair

Gene Aliases

HGNC Name

mitochondrial calcium uptake 1

HGNC Previous Symbol

CBARA1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:72508166 G>T

NM_001195518.2

p.T214N

c.641C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a35 overlapping SVs

Surrounding Variants

1 paper

chr10:72508253 C>T

NM_001195518.2

p.R185Q

c.554G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a35 overlapping SVs

12 papers

chr10:72508254 G>A

NM_001195518.2

p.R185*

c.553C>T

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=6, hom=0)35 overlapping SVs

6 papers

chr10:72508260 G>A

NM_006077.4

p.Q185*

c.553C>T

NM_001195518.2

p.Q183*

c.547C>T

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=2, hom=0)35 overlapping SVs

1 paper

chr10:72508266 T>C

NM_001195518.2

p.I181V

c.541A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a35 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."