Varaico: Literature-Extracted Genetic Variants

Gene:MGA
Variant:p.L1186S

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
3 papers
NM_001400225.1
p.L1186S
c.3557T>C
Surrounding Variants
1 paper
NM_001400225.1
p.V1193I
c.3577G>A
1 paper
NM_001400225.1
p.R1210L
c.3629G>T
1 paper
NM_001400225.1
p.W1160*
c.3480G>A
1 paper
NM_001400225.1
p.W1160*
c.3479G>A
1 paper
NM_001400225.1
p.L1159*
c.3476T>A
1 paper
NM_001400225.1
p.L1159*
c.3476T>G
1 paper
NM_001400225.1
p.R1155*
c.3463C>T
1 paper
NM_001400225.1
p.E1151*
c.3451G>T
1 paper
NM_001400225.1
p.E1147K
c.3439G>A
1 paper
NM_001400225.1
p.R1221delFs
c.3661delC
1 paper
NM_001400225.1
p.R1221fs
c.3661_3662fs
1 paper
NM_001400225.1
p.R1240L
c.3719G>T
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