Varaico: Literature-Extracted Genetic Variants

Gene:VMA21
Variant:p.G58R

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.G58R
c.172G>A
Surrounding Variants
1 paper
NM_001017980.4
p.G58R
c.172G>C
1 paper
NM_001017980.4
p.G55G
c.165C>T
7 papers
NM_001017980.4
p.G55Splc
c.164-6T>G
2 papers
NM_001017980.4
p.G55Splc
c.164-7T>A
12 papers
NM_001017980.4
p.G55Splc
c.164-7T>G
2 papers
NM_001017980.4
p.D63G
c.188A>G
1 paper
NM_001017980.4
p.Y65C
c.194A>G
2 papers
NM_001017980.4
p.G55Splc
c.164-20T>A
1 paper
NM_001017980.4
p.A69V
c.206C>T
1 paper
NM_001017980.4
p.V76A
c.227T>C
1 paper
NM_001017980.4
p.L82L
c.246C>G
1 paper
NM_001017980.4
p.A87S
c.259G>T
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