Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.Q216H

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.Q216H
c.648A>C
Surrounding Variants
1 paper
NM_198551.4
p.Q216H
c.648A>T
1 paper
NM_198551.4
p.H212L
c.635A>T
2 papers
NM_198551.4
p.A225P
c.673G>C
1 paper
NM_198551.4
p.Q207_K208del1
c.621_623delGAA
1 paper
NM_198551.4
p.T205A
c.613A>G
1 paper
NM_198551.4
p.E232_M233insFs
c.696_697ins40
1 paper
NM_198551.4
p.P241insFs
c.722_723insC
1 paper
NM_198551.4
p.S189insFs
c.567dupT
1 paper
NM_198551.4
p.D190_E198del0
c.569_592del24
1 paper
NM_198551.4
p.S186P
c.556T>C
1 paper
NM_198551.4
p.T248_S249del0
c.742_747del6
1 paper
NM_198551.4
p.N168T
c.503A>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."