Varaico: Literature-Extracted Genetic Variants

Gene:VMA21
Variant:p.Q13*

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
1 paper
NM_001017980.4
p.Q13*
c.37C>T
Surrounding Variants
1 paper
NM_001017980.4
p.A11S
c.31G>T
5 papers
NM_001017980.4
p.L9delins
c.27delinsT
3 papers
NM_001017980.4
p.R18G
c.52A>G
2 papers
NM_001017980.4
p.P4S
c.10C>T
1 paper
NM_001017980.4
p.M1I
c.3G>A
1 paper
NM_001363810.1
p.L10F
c.28C>T
1 paper
NM_001363810.1
p.Q9delins
c.27delinsT
1 paper
NM_001363810.1
p.Q9R
c.26A>G
7 papers
NM_001017980.4
p.R18Splc
c.54-27A>C
1 paper
NM_001017980.4
p.R18Splc
c.54-27A>G
6 papers
NM_001017980.4
p.R18Splc
c.54-27A>T
2 papers
NM_001017980.4
p.R18Splc
c.54-1G>A
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