Varaico: Literature-Extracted Genetic Variants

Gene:MAGEE1
Variant:p.K17N

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.K17N
c.51G>C
Surrounding Variants
1 paper
NM_020932.3
p.K17N
c.51G>T
1 paper
NM_020932.3
p.V15I
c.43G>A
1 paper
NM_020932.3
p.A30P
c.88G>C
1 paper
NM_020932.3
p.D39E
c.117T>A
1 paper
NM_020932.3
p.S65R
c.193A>C
1 paper
NM_020932.3
p.S65R
c.195C>A
1 paper
NM_020932.3
p.S65R
c.195C>G
1 paper
NM_020932.3
p.S67F
c.200C>T
1 paper
NM_020932.3
p.G75D
c.224G>A
1 paper
NM_020932.3
p.V80M
c.238G>A
1 paper
NM_020932.3
p.P81S
c.241C>T
1 paper
NM_020932.3
p.E98_E110del0
c.293_328del36
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