Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.K1253insFs

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.K1253insFs
c.3758_3759insA
Surrounding Variants
1 paper
NM_198551.4
p.K1253_Q1254insFs
c.3759_3760insT
1 paper
NM_198551.4
p.N1285S
c.3854A>G
1 paper
NM_198551.4
p.R1287H
c.3860G>A
1 paper
NM_198551.4
p.I1223V
c.3667A>G
1 paper
NM_198551.4
p.K1308_K1309delFs
c.3922_3925del4
5 papers
NM_198551.4
p.R1207R
c.3621A>G
1 paper
NM_198551.4
p.V1204_V1211Fs
c.3610_3631delinsTCACGGAACAGCAAATTTCTGAGAAGTTGAFs
1 paper
NM_198551.4
p.S1371N
c.4112G>A
1 paper
NM_198551.4
p.I1402fs
c.4204_4205fs
1 paper
NM_198551.4
p.N1407K
c.4221C>A
1 paper
NM_198551.4
p.N1407K
c.4221C>G
1 paper
NM_198551.4
p.D1432E
c.4296T>A
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