Varaico: Literature-Extracted Genetic Variants

Gene:VMA12
Variant:p.V158I

VMA12

38 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) in some human cells. The encod...

Pfam Domains

Vma12aa 78–207UCSCEndoplasmic reticulum-based factor for assembly of V-ATPase

Gene Aliases

HGNC Name

vacuolar ATPase assembly factor VMA12

HGNC Previous Symbols

TMEM199; C17orf32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152464.3
p.V158I
c.472G>A
Surrounding Variants
1 paper
NM_152464.3
p.I150insFs
c.449_450ins4
1 paper
NM_152464.3
p.R141K
c.422G>A
4 papers
NM_152464.3
p.Q125_D126Splc
c.376-1G>A
1 paper
NM_152464.3
p.R178W
c.532C>T
1 paper
NM_152464.3
p.L183F
c.549G>C
1 paper
NM_152464.3
p.L183F
c.549G>T
2 papers
NM_152464.3
p.S187F
c.560C>T
2 papers
NM_152464.3
p.R199G
c.595C>G
1 paper
NM_152464.3
p.T119T
c.357C>A
1 paper
NM_152464.3
p.D71Splc
c.212-1G>T
1 paper
NM_152464.3
p.D71N
c.211G>A
2 papers
NM_152464.3
p.K43fs
c.127_128fs
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