Varaico: Literature-Extracted Genetic Variants

Gene:VMA21
Variant:p.G55V

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.G55V
c.164G>T
Surrounding Variants
5 papers
NM_001017980.4
p.G55Splc
c.163+3A>G
1 paper
NM_001017980.4
p.E54A
c.161A>C
10 papers
NM_001017980.4
p.G55Splc
c.163+4A>G
1 paper
NM_001017980.4
p.F53S
c.158T>C
2 papers
NM_001017980.4
p.T48P
c.142A>C
2 papers
NM_001017980.4
p.G43E
c.128G>A
1 paper
NM_001017980.4
p.I42V
c.124A>G
1 paper
NM_001363810.1
p.P96S
c.286C>T
1 paper
NM_001017980.4
p.F33L
c.99C>A
1 paper
NM_001017980.4
p.F33L
c.99C>G
1 paper
NM_001017980.4
p.F33L
c.97T>C
2 papers
NM_001017980.4
p.F32del1
c.94_96delTTC
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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."