Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.F132L

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.F132L
c.394T>C
Surrounding Variants
1 paper
NM_198551.4
p.F132L
c.396T>A
1 paper
NM_198551.4
p.F132L
c.396T>G
1 paper
NM_198551.4
p.H133Y
c.397C>T
1 paper
NM_198551.4
p.N134T
c.401A>C
1 paper
NM_198551.4
p.D126H
c.376G>C
1 paper
NM_198551.4
p.E139*
c.415G>T
1 paper
NM_198551.4
p.L140F
c.418C>T
1 paper
NM_198551.4
p.G142R
c.424G>A
1 paper
NM_198551.4
p.G142R
c.424G>C
1 paper
NM_198551.4
p.G142E
c.425G>A
3 papers
NM_198551.4
p.T120M
c.359C>T
1 paper
NM_198551.4
p.Y147*
c.441C>A
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