Varaico: Literature-Extracted Genetic Variants

Gene:MS4A4E
Variant:p.S325insFs

MS4A4E

21 papers

RefSeq Summary

Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004].

Pfam Domains

CD20aa 55–152UCSCCD20-like family

Gene Aliases

HGNC Name

membrane spanning 4-domains A4E

HGNC Previous Name

membrane-spanning 4-domains, subfamily A, member 4E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393391.1
p.S325insFs
c.973dupT
Surrounding Variants
1 paper
NM_001393391.1
p.V279F
c.835G>T
1 paper
NM_001393391.1
p.R186_L187insFs
c.558_559insC
1 paper
NM_001393391.1
p.P159S
c.475C>T
1 paper
NM_001393391.1
p.C156_C157delFs
c.468_469delAA
1 paper
NM_001393391.1
p.A146S
c.436G>T
1 paper
NM_001393391.1
p.T129M
c.386C>T
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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."