Varaico: Literature-Extracted Genetic Variants

Gene:MIA2
Variant:p.H413L

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.H413L
c.1238A>T
Surrounding Variants
1 paper
NM_001329214.4
p.S417R
c.1251T>G
1 paper
NM_001329214.4
p.G406A
c.1217G>C
1 paper
NM_001329214.4
p.D405Y
c.1213G>T
1 paper
NM_001329214.4
p.I430M
c.1290A>G
1 paper
NM_001329214.4
p.E450K
c.1348G>A
1 paper
NM_001329214.4
p.S451S
c.1353T>G
1 paper
NM_001329214.4
p.W468R
c.1402T>C
1 paper
NM_001329214.4
p.A351G
c.1052C>G
1 paper
NM_001329214.4
p.E323K
c.967G>A
1 paper
NM_001329214.4
p.E299A
c.896A>C
1 paper
NM_001329214.4
p.S286L
c.857C>T
1 paper
NM_001329214.4
p.I284T
c.851T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."