Varaico: Literature-Extracted Genetic Variants

Gene:MAGEE1
Variant:p.S575R

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.S575R
c.1723A>C
Surrounding Variants
1 paper
NM_020932.3
p.S575R
c.1725C>A
1 paper
NM_020932.3
p.S575R
c.1725C>G
1 paper
NM_020932.3
p.P568L
c.1703C>T
1 paper
NM_020932.3
p.G582V
c.1745G>T
1 paper
NM_020932.3
p.A555E
c.1664C>A
1 paper
NM_020932.3
p.G595A
c.1784G>C
1 paper
NM_020932.3
p.R614_E615ins15
c.1840_1844ins45
1 paper
NM_020932.3
p.R617K
c.1850G>A
1 paper
NM_020932.3
p.Q528Q
c.1584G>A
1 paper
NM_020932.3
p.V630M
c.1888G>A
1 paper
NM_020932.3
p.R636H
c.1907G>A
1 paper
NM_020932.3
p.Y640F
c.1919A>T
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