Varaico: Literature-Extracted Genetic Variants

Gene:MIA2
Variant:p.E536K

MIA2

69 papers

RefSeq Summary

This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcri...

Pfam Domains

SH3_2aa 43–99UCSCVariant SH3 domain

Gene Aliases

HGNC Name

MIA SH3 domain ER export factor 2

HGNC Previous Symbols

CTAGE5; MGEA; MGEA6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001329214.4
p.E536K
c.1606G>A
Surrounding Variants
1 paper
NM_001329214.4
p.E536V
c.1607A>T
7 papers
NM_001329214.4
p.D547H
c.1639G>C
1 paper
NM_001329214.4
p.S552L
c.1655C>T
1 paper
NM_001329214.4
p.A562A
c.1686T>C
1 paper
NM_001329214.4
p.Q594delFs
c.1781delA
1 paper
NM_001329214.4
p.D597_A598delFs
c.1791_1792delTG
1 paper
NM_001329214.4
p.T627A
c.1879A>G
1 paper
NM_001329214.4
p.E628_R629delFs
c.1884_1885delAA
1 paper
NM_001329214.4
p.W468R
c.1402T>C
1 paper
NM_001329214.4
p.S451S
c.1353T>G
1 paper
NM_001329214.4
p.E450K
c.1348G>A
1 paper
NM_001329214.4
p.I430M
c.1290A>G
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