Varaico: Literature-Extracted Genetic Variants

Gene:MGA
Variant:p.S343fs

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.S343fs
c.1027_1028fs
Surrounding Variants
1 paper
NM_001400225.1
p.L342_S343insFs
c.1026_1027insCA
1 paper
NM_001400225.1
p.L342F
c.1024C>T
1 paper
NM_001400225.1
p.Q347*
c.1039C>T
1 paper
NM_001400225.1
p.D339H
c.1015G>C
1 paper
NM_001400225.1
p.L333P
c.998T>C
1 paper
NM_001400225.1
p.R330*
c.988C>T
1 paper
NM_001400225.1
p.S325delFs
c.974delC
1 paper
NM_001400225.1
p.G320D
c.959G>A
1 paper
NM_001400225.1
p.S300*
c.899C>G
1 paper
NM_001400225.1
p.R293H
c.878G>A
1 paper
NM_001400225.1
p.R291W
c.871C>T
1 paper
NM_001400225.1
p.Q268H
c.804G>C
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