Varaico: Literature-Extracted Genetic Variants

Gene:VMA21
Variant:p.R93*

VMA21

55 papers

RefSeq Summary

This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012].

Pfam Domains

VMA21aa 25–88UCSCVMA21-like domain

Gene Aliases

HGNC Name

vacuolar ATPase assembly factor VMA21

HGNC Previous Symbol

MEAX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001017980.4
p.R93*
c.277C>T
NM_001363810.1
p.R148*
c.442C>T
Surrounding Variants
1 paper
NM_001017980.4
p.R93Q
c.278G>A
1 paper
NM_001017980.4
p.Q94fs
c.280_281fs
12 papers
NM_001017980.4
p.G91A
c.272G>C
2 papers
NM_001017980.4
p.W95*
c.284G>A
1 paper
NM_001017980.4
p.W95*
c.285G>A
1 paper
NM_001017980.4
p.W88*
c.264G>A
2 papers
NM_001017980.4
p.W88*
c.263G>A
4 papers
NM_001017980.4
p.G98G
c.294C>T
1 paper
NM_001017980.4
p.K99E
c.295A>G
1 paper
NM_001017980.4
p.K99*
c.295A>T
1 paper
NM_001017980.4
p.A87S
c.259G>T
1 paper
NM_001017980.4
p.L82L
c.246C>G
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