Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.Y969*

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.Y969*
c.2907T>A
Surrounding Variants
1 paper
NM_198551.4
p.Y969C
c.2906A>G
1 paper
NM_198551.4
p.L959L
c.2877G>T
1 paper
NM_198551.4
p.R980C
c.2938C>T
1 paper
NM_198551.4
p.E954K
c.2860G>A
1 paper
NM_198551.4
p.A990_E991ins10
c.2968_2972ins30
1 paper
NM_198551.4
p.E949Q
c.2845G>C
1 paper
NM_198551.4
p.R997C
c.2989C>T
1 paper
NM_198551.4
p.V998L
c.2992G>C
1 paper
NM_198551.4
p.V998L
c.2992G>T
1 paper
NM_198551.4
p.Q940*
c.2818C>T
1 paper
NM_198551.4
p.E1008K
c.3022G>A
2 papers
NM_198551.4
p.L924fs
c.2770_2771fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."