Varaico: Literature-Extracted Genetic Variants

Gene:MVB12A
Variant:p.S58P

MVB12A

25 papers

Pfam Domains

MABPaa 1–155UCSCMABP domain

Gene Aliases

HGNC Name

multivesicular body subunit 12A

HGNC Previous Symbol

FAM125A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138401.4
p.S58P
c.172T>C
Surrounding Variants
1 paper
NM_138401.4
p.I73M
c.219C>G
1 paper
NM_138401.4
p.S18insFs
c.52_53ins19
1 paper
NM_138401.4
p.M93V
c.277A>G
1 paper
NM_138401.4
p.V4L
c.10G>C
1 paper
NM_138401.4
p.R104C
c.310C>T
1 paper
NM_138401.4
p.T117M
c.350C>T
1 paper
NM_138401.4
p.D121N
c.361G>A
1 paper
NM_138401.4
p.P132S
c.394C>T
1 paper
NM_138401.4
p.G138Splc
c.414-43C>A
1 paper
NM_138401.4
p.P153R
c.458C>G
1 paper
NM_138401.4
p.K158N
c.474G>C
1 paper
NM_138401.4
p.K158N
c.474G>T
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