Varaico: Literature-Extracted Genetic Variants

Gene:MIA2
Variant:p.R208H

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.R208H
c.623G>A
Surrounding Variants
1 paper
NM_001329214.4
p.R208C
c.622C>T
1 paper
NM_001329214.4
p.Q206R
c.617A>G
1 paper
NM_001329214.4
p.V214V
c.642C>T
1 paper
NM_001329214.4
p.E202K
c.604G>A
1 paper
NM_001329214.4
p.P216S
c.646C>T
1 paper
NM_001329214.4
p.E198K
c.592G>A
1 paper
NM_001329214.4
p.E232*
c.694G>T
1 paper
NM_001329214.4
p.D176E
c.528C>A
1 paper
NM_001329214.4
p.D176E
c.528C>G
1 paper
NM_001329214.4
p.K255E
c.763A>G
1 paper
NM_001329214.4
p.P143L
c.428C>T
5 papers
NM_001329214.4
p.I141M
c.423A>G
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