Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.P241insFs

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.P241insFs
c.722_723insC
Surrounding Variants
1 paper
NM_198551.4
p.T248_S249del0
c.742_747del6
1 paper
NM_198551.4
p.E232_M233insFs
c.696_697ins40
2 papers
NM_198551.4
p.A225P
c.673G>C
1 paper
NM_198551.4
p.Q216H
c.648A>C
1 paper
NM_198551.4
p.Q216H
c.648A>T
1 paper
NM_198551.4
p.H212L
c.635A>T
1 paper
NM_198551.4
p.M271T
c.812T>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.T277del1
c.829_831delACC
1 paper
NM_198551.4
p.T277P
c.829A>C
1 paper
NM_198551.4
p.L286F
c.856C>T
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