Varaico: Literature-Extracted Genetic Variants

Gene:MVB12A

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
1–12 of 19 variants
1 paper
NM_138401.4
p.V4L
c.10G>C
1 paper
NM_138401.4
p.S18insFs
c.52_53ins19
1 paper
NM_138401.4
p.S58P
c.172T>C
1 paper
NM_138401.4
p.I73M
c.219C>G
1 paper
NM_138401.4
p.M93V
c.277A>G
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
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