Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.L1476P

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.L1476P
c.4427T>C
Surrounding Variants
1 paper
NM_198551.4
p.V1466I
c.4396G>A
1 paper
NM_198551.4
p.R1459Q
c.4376G>A
2 papers
NM_198551.4
p.S1458F
c.4373C>T
1 paper
NM_198551.4
p.V1457I
c.4369G>A
1 paper
NM_198551.4
p.I1522I
c.4566T>C
1 paper
NM_198551.4
p.A1533T
c.4597G>A
1 paper
NM_198551.4
p.G1437E
c.4310G>A
1 paper
NM_198551.4
p.D1432E
c.4296T>A
1 paper
NM_198551.4
p.D1432E
c.4296T>G
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.I1402fs
c.4204_4205fs
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