Varaico: Literature-Extracted Genetic Variants

Gene:VMA12
Variant:p.R31P

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
6 papers
NM_152464.3
p.R31P
c.92G>C
Surrounding Variants
1 paper
NM_152464.3
p.L34P
c.101T>C
1 paper
NM_152464.3
p.P27T
c.79C>A
1 paper
NM_152464.3
p.A36fs
c.106_107fs
2 papers
NM_152464.3
p.A37V
c.110C>T
2 papers
NM_152464.3
p.K40N
c.120G>C
2 papers
NM_152464.3
p.K40N
c.120G>T
2 papers
NM_152464.3
p.K43delFs
c.128delA
2 papers
NM_152464.3
p.K43fs
c.127_128fs
2 papers
NM_152464.3
p.L15S
c.44T>C
5 papers
NM_152464.3
p.A14P
c.40G>C
5 papers
NM_152464.3
p.A7E
c.20C>A
1 paper
NM_152464.3
p.D71N
c.211G>A
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