Varaico: Literature-Extracted Genetic Variants

Gene:MICU1
Variant:p.R30Q

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.R30Q
c.89G>A
Surrounding Variants
1 paper
NM_001195518.2
p.R31*
c.91C>T
1 paper
NM_001195518.2
p.V36delFs
c.108delC
4 papers
NM_001195518.2
p.R18*
c.52C>T
1 paper
NM_001195518.2
p.T45_A46Fs
c.134_136delinsCCFs
2 papers
NM_001195518.2
p.A14delFs
c.40delC
2 papers
NM_001195518.2
p.A14fs
c.40_41fs
1 paper
NM_001195518.2
p.S47N
c.140G>A
1 paper
NM_001195518.2
p.L13M
c.37C>A
1 paper
NM_001195518.2
p.W52*
c.155G>A
1 paper
NM_001195518.2
p.W52*
c.156G>A
1 paper
NM_001195518.2
p.L7I
c.19C>A
1 paper
NM_001195518.2
p.S6S
c.18A>C
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