Varaico: Literature-Extracted Genetic Variants

Gene:MGA
Variant:p.S688R

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.S688R
c.2064T>G
Surrounding Variants
1 paper
NM_001400225.1
p.Q690*
c.2068C>T
1 paper
NM_001400225.1
p.S687_S688delFs
c.2061_2062delTA
2 papers
NM_001400225.1
p.E685fs
c.2053_2054fs
1 paper
NM_001400225.1
p.D696G
c.2087A>G
1 paper
NM_001400225.1
p.V679fs
c.2035_2036fs
1 paper
NM_001400225.1
p.Y699insFs
c.2096_2097insAC
1 paper
NM_001400225.1
p.Y699insFs
c.2096_2097ins4
1 paper
NM_001400225.1
p.S704F
c.2111C>T
1 paper
NM_001400225.1
p.E709K
c.2125G>A
1 paper
NM_001400225.1
p.I711L
c.2131A>C
1 paper
NM_001400225.1
p.I711L
c.2131A>T
1 paper
NM_001400225.1
p.L714*
c.2141T>A
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