Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.E557Q

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.E557Q
c.1669G>C
Surrounding Variants
1 paper
NM_198551.4
p.E511D
c.1533A>T
7 papers
NM_198551.4
p.K605R
c.1814A>G
2 papers
NM_198551.4
p.R615C
c.1843C>T
1 paper
NM_198551.4
p.E621_V623del3
c.1861_1868del9
1 paper
NM_198551.4
p.E621K
c.1861G>A
6 papers
NM_198551.4
p.K482E
c.1444A>G
1 paper
NM_198551.4
p.F632V
c.1894T>G
1 paper
NM_198551.4
p.Q480E
c.1438C>G
1 paper
NM_198551.4
p.E647K
c.1939G>A
1 paper
NM_198551.4
p.H463D
c.1387C>G
1 paper
NM_198551.4
p.A460T
c.1378G>A
1 paper
NM_198551.4
p.N654S
c.1961A>G
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