Varaico: Literature-Extracted Genetic Variants

Gene:VMA22
Variant:p.R46G

VMA22

29 papers

RefSeq Summary

The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. ...

Pfam Domains

Vma22_CCDC115aa 11–144UCSCVma22/CCDC115

Gene Aliases

HGNC Name

vacuolar ATPase assembly factor VMA22

HGNC Previous Symbol

CCDC115

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032357.4
p.R46G
c.136C>G
Surrounding Variants
1 paper
NM_032357.4
p.M49K
c.146T>A
1 paper
NM_032357.4
p.M49I
c.147G>T
1 paper
NM_032357.4
p.M49I
c.147G>C
1 paper
NM_032357.4
p.M49I
c.147G>A
1 paper
NM_032357.4
p.K52E
c.154A>G
1 paper
NM_032357.4
p.E37_G38Splc
c.112-1G>A
1 paper
NM_032357.4
p.E36G
c.107A>G
7 papers
NM_032357.4
p.L31S
c.92T>C
2 papers
NM_032357.4
p.L13P
c.38T>C
3 papers
NM_032357.4
p.D11Y
c.31G>T
2 papers
NM_032357.4
p.R7*
c.19C>T
1 paper
NM_032357.4
p.D5insFs
c.13dupG
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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."