Varaico: Literature-Extracted Genetic Variants

Gene:VMA22

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
1–12 of 24 variants
7 papers
NM_032357.4
p.L31S
c.92T>C
3 papers
NM_032357.4
p.D11Y
c.31G>T
2 papers
NM_032357.4
p.R7*
c.19C>T
2 papers
NM_032357.4
p.L13P
c.38T>C
2 papers
NM_032357.4
p.G127*
c.379G>T
2 papers
NM_032357.4
p.I128N
c.383T>A
2 papers
NM_032357.4
p.R142Q
c.425G>A
2 papers
NM_032357.4
p.A152V
c.455C>T
1 paper
NM_032357.4
p.M1insFs
c.1dupA
1 paper
NM_032357.4
p.L4insFs
c.11dupT
1 paper
NM_032357.4
p.D5insFs
c.13dupG
1 paper
NM_032357.4
p.E36G
c.107A>G
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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."