Varaico: Literature-Extracted Genetic Variants

Gene:MICU1
Variant:p.K126E

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.K126E
c.376A>G
Surrounding Variants
5 papers
NM_001195518.2
p.R129*
c.385C>T
8 papers
NM_001195518.2
p.R129P
c.386G>C
1 paper
NM_001195518.2
p.A120S
c.358G>T
1 paper
NM_001195518.2
p.R119*
c.355C>T
1 paper
NM_001195518.2
p.V111fs
c.331_332fs
1 paper
NM_001195518.2
p.K110_V111Splc
c.331-1G>C
2 papers
NM_001195518.2
p.R154*
c.460C>T
2 papers
NM_001195518.2
p.R154Q
c.461G>A
3 papers
NM_001195518.2
p.H165Splc
c.493+1G>A
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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."