Varaico: Literature-Extracted Genetic Variants

Gene:MIA2
Variant:p.F91S

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.F91S
c.272T>C
Surrounding Variants
1 paper
NM_001329214.4
p.I103M
c.309A>G
1 paper
NM_001329214.4
p.D78A
c.233A>C
1 paper
NM_001329214.4
p.T61I
c.182C>T
1 paper
NM_001329214.4
p.R56Q
c.167G>A
1 paper
NM_001329214.4
p.P53L
c.158C>T
1 paper
NM_001329214.4
p.L117F
c.349C>T
1 paper
NM_001329214.4
p.D127V
c.380A>T
1 paper
NM_001329214.4
p.G135C
c.403G>T
5 papers
NM_001329214.4
p.I141M
c.423A>G
1 paper
NM_001329214.4
p.P143L
c.428C>T
1 paper
NM_001329214.4
p.V6A
c.17T>C
1 paper
NM_001329214.4
p.A2A
c.6A>G
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