Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.N378I

MIA3

168 papers

Pfam Domains

SH3_2aa 49–105UCSCVariant SH3 domain
SH3_2aa 49–105UCSCVariant SH3 domain

Gene Aliases

HGNC Name

MIA SH3 domain ER export factor 3

HGNC Alias Symbols

UNQ6077; FLJ39207; KIAA0268; TANGO1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198551.4
p.N378I
c.1133A>T
Surrounding Variants
2 papers
NM_198551.4
p.D375H
c.1123G>C
1 paper
NM_198551.4
p.P370fs
c.1108_1109fs
4 papers
NM_198551.4
p.T367S
c.1100C>G
4 papers
NM_198551.4
p.T367S
c.1099A>T
1 paper
NM_198551.4
p.T392T
c.1176A>T
1 paper
NM_198551.4
p.D362ins1
c.1084_1085insGGC
1 paper
NM_198551.4
p.E361_D362ins1
c.1083_1084insGGG
1 paper
NM_198551.4
p.M401I
c.1203G>A
1 paper
NM_198551.4
p.S405N
c.1214G>A
1 paper
NM_198551.4
p.P351S
c.1051C>T
1 paper
NM_198551.4
p.V347I
c.1039G>A
1 paper
NM_198551.4
p.S345S
c.1035T>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."