Varaico: Literature-Extracted Genetic Variants

Gene:MAGEE1
Variant:p.H796Q

MAGEE1

109 papers

RefSeq Summary

This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminu...

Pfam Domains

MAGEaa 498–666UCSCMAGE homology domain
MAGEaa 817–912UCSCMAGE homology domain

Gene Aliases

HGNC Name

MAGE family member E1

HGNC Alias Symbols

KIAA1587; DAMAGE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020932.3
p.H796Q
c.2388T>G
Surrounding Variants
1 paper
NM_020932.3
p.H796Q
c.2388T>A
1 paper
NM_020932.3
p.L805P
c.2414T>C
1 paper
NM_020932.3
p.S811S
c.2433C>G
1 paper
NM_020932.3
p.S747N
c.2240G>A
1 paper
NM_020932.3
p.G869insFs
c.2607dupG
1 paper
NM_020932.3
p.R870fs
c.2608_2609fs
1 paper
NM_020932.3
p.A717V
c.2150C>T
1 paper
NM_020932.3
p.C876G
c.2626T>G
1 paper
NM_020932.3
p.E716D
c.2148A>C
1 paper
NM_020932.3
p.E716D
c.2148A>T
1 paper
NM_020932.3
p.R711K
c.2132G>A
1 paper
NM_020932.3
p.R697S
c.2091A>C
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