Varaico: Literature-Extracted Genetic Variants

Gene:MICU1
Variant:p.V394Splc

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_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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195518.2
p.V394Splc
c.1181-3782C>T
Surrounding Variants
1 paper
NM_001195518.2
p.S409*
c.1226C>G
1 paper
NM_001195518.2
p.S409*
c.1226C>A
1 paper
NM_001195518.2
p.D421A
c.1262A>C
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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."