Varaico: Literature-Extracted Genetic Variants

Gene:MGA
Variant:p.S812*

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
2 papers
NM_001400225.1
p.S812*
c.2435C>G
Surrounding Variants
2 papers
NM_001400225.1
p.S812*
c.2435C>A
1 paper
NM_001400225.1
p.P893delFs
c.2678_2679delCT
1 paper
NM_001400225.1
p.P893fs
c.2677_2678fs
1 paper
NM_001400225.1
p.P893delFs
c.2679delT
1 paper
NM_001400225.1
p.V894fs
c.2680_2681fs
1 paper
NM_001400225.1
p.R896*
c.2686C>T
1 paper
NM_001400225.1
p.R903_Q904delFs
c.2709_2712del4
1 paper
NM_001400225.1
p.A905fs
c.2713_2714fs
2 papers
NM_001400225.1
p.F907fs
c.2719_2720fs
1 paper
NM_001400225.1
p.R910*
c.2728C>T
1 paper
NM_001400225.1
p.S924L
c.2771C>T
1 paper
NM_001400225.1
p.P925T
c.2773C>A
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