Varaico: Literature-Extracted Genetic Variants

Gene:MGA
Variant:p.K1247*

MGA

193 papers

Pfam Domains

T-boxaa 77–260UCSCT-box
MGA_domaa 1041–1087UCSCMGA, conserved domain
HLHaa 2424–2475UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

MAX dimerization protein MGA

HGNC Alias Symbols

KIAA0518; MAD5; MXD5; FLJ12634

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001400225.1
p.K1247*
c.3739A>T
Surrounding Variants
2 papers
NM_001400225.1
p.K1248insFs
c.3744dupA
1 paper
NM_001400225.1
p.R1246ins11
c.3737_3738ins33
1 paper
NM_001400225.1
p.R1246*
c.3736C>T
1 paper
NM_001400225.1
p.E1249K
c.3745G>A
1 paper
NM_001400225.1
p.E1249fs
c.3745_3746fs
1 paper
NM_001400225.1
p.R1242*
c.3724C>T
1 paper
NM_001400225.1
p.R1240L
c.3719G>T
1 paper
NM_001400225.1
p.S1263*
c.3788C>A
1 paper
NM_001400225.1
p.Q1266*
c.3796C>T
1 paper
NM_001400225.1
p.Q1267L
c.3800A>T
1 paper
NM_001400225.1
p.C1270S
c.3809G>C
1 paper
NM_001400225.1
p.R1221fs
c.3661_3662fs
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