Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.F754I

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.F754I
c.2260T>A
Surrounding Variants
1 paper
NM_198551.4
p.V760I
c.2278G>A
1 paper
NM_198551.4
p.S742_P747del6
c.2224_2240del18
1 paper
NM_198551.4
p.R741W
c.2221C>T
1 paper
NM_198551.4
p.E722_D723insC
c.2164_2168ins3
1 paper
NM_198551.4
p.L717P
c.2150T>C
1 paper
NM_198551.4
p.S710N
c.2129G>A
1 paper
NM_198551.4
p.D706A
c.2117A>C
1 paper
NM_198551.4
p.D706H
c.2116G>C
1 paper
NM_198551.4
p.E805G
c.2414A>G
1 paper
NM_198551.4
p.T700I
c.2099C>T
2 papers
NM_198551.4
p.M697T
c.2090T>C
1 paper
NM_198551.4
p.R814H
c.2441G>A
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