Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.L331R

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.L331R
c.992T>G
Surrounding Variants
1 paper
NM_198551.4
p.L330_L331insFs
c.990_991ins10
1 paper
NM_198551.4
p.D326A
c.977A>C
1 paper
NM_198551.4
p.D324G
c.971A>G
1 paper
NM_198551.4
p.E323D
c.969A>T
1 paper
NM_198551.4
p.S345S
c.1035T>G
1 paper
NM_198551.4
p.V347I
c.1039G>A
1 paper
NM_198551.4
p.P351S
c.1051C>T
1 paper
NM_198551.4
p.D302V
c.905A>T
1 paper
NM_198551.4
p.E361_D362ins1
c.1083_1084insGGG
1 paper
NM_198551.4
p.D362ins1
c.1084_1085insGGC
4 papers
NM_198551.4
p.T367S
c.1099A>T
4 papers
NM_198551.4
p.T367S
c.1100C>G
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