Varaico: Literature-Extracted Genetic Variants

Gene:MAGEE1
Variant:p.V380L

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.V380L
c.1138G>T
Surrounding Variants
1 paper
NM_020932.3
p.V380L
c.1138G>C
2 papers
NM_020932.3
p.S376L
c.1127C>T
1 paper
NM_020932.3
p.S389N
c.1166G>A
1 paper
NM_020932.3
p.G361S
c.1081G>A
1 paper
NM_020932.3
p.P400Q
c.1199C>A
1 paper
NM_020932.3
p.P348H
c.1043C>A
1 paper
NM_020932.3
p.S419R
c.1257T>A
1 paper
NM_020932.3
p.S419S
c.1257T>C
1 paper
NM_020932.3
p.E339D
c.1017G>C
1 paper
NM_020932.3
p.E339D
c.1017G>T
1 paper
NM_020932.3
p.E339*
c.1015G>T
1 paper
NM_020932.3
p.V422L
c.1264G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."