Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.V447L

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.V447L
c.1339G>T
Surrounding Variants
1 paper
NM_198551.4
p.V447L
c.1339G>C
1 paper
NM_198551.4
p.I449F
c.1345A>T
1 paper
NM_198551.4
p.I449S
c.1346T>G
1 paper
NM_198551.4
p.D438N
c.1312G>A
2 papers
NM_198551.4
p.N459N
c.1377C>T
1 paper
NM_198551.4
p.A460T
c.1378G>A
1 paper
NM_198551.4
p.H463D
c.1387C>G
1 paper
NM_198551.4
p.G426E
c.1277G>A
1 paper
NM_198551.4
p.S423N
c.1268G>A
1 paper
NM_198551.4
p.S423insFs
c.1268_1269insCT
1 paper
NM_198551.4
p.D422insFs
c.1265_1266insCT
1 paper
NM_198551.4
p.Q480E
c.1438C>G
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