Varaico: Literature-Extracted Genetic Variants

Gene:MICU1
Variant:p.E432delFs

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
4 papers
NM_001195518.2
p.E432delFs
c.1295delT
Surrounding Variants
1 paper
NM_001195518.2
p.E432K
c.1294G>A
2 papers
NM_006077.4
p.N432delFs
c.1295delT
NM_001195518.2
p.N430delFs
c.1289delT
1 paper
NM_006077.4
p.N432fs
c.1294_1295fs
1 paper
NM_001195518.2
p.G444R
c.1330G>C
1 paper
NM_001195518.2
p.Q458*
c.1372C>T
1 paper
NM_001195518.2
p.C463S
c.1387T>A
1 paper
NM_001195518.2
p.C463S
c.1388G>C
1 paper
NM_001195518.2
p.Q465R
c.1394A>G
1 paper
NM_001195518.2
p.D421A
c.1262A>C
1 paper
NM_001195518.2
p.S409*
c.1226C>G
1 paper
NM_001195518.2
p.S409*
c.1226C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."