Varaico: Literature-Extracted Genetic Variants

Gene:MS4A4A
Variant:p.R124I

MS4A4A

54 papers

RefSeq Summary

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and d...

Pfam Domains

CD20aa 65–207UCSCCD20-like family

Gene Aliases

HGNC Name

membrane spanning 4-domains A4A

HGNC Previous Symbol

MS4A4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_148975.3
p.R124I
c.371G>T
Surrounding Variants
1 paper
NM_148975.3
p.L129_V130Splc
c.387+2T>G
1 paper
NM_148975.3
p.S116T
c.346T>A
1 paper
NM_148975.3
p.M110_F111Splc
c.331-1365C>G
1 paper
NM_148975.3
p.L129_V130Splc
c.388-28T>C
1 paper
NM_148975.3
p.V130A
c.389T>C
1 paper
NM_148975.3
p.T139I
c.416C>T
1 paper
NM_148975.3
p.S140R
c.418A>C
1 paper
NM_148975.3
p.S140R
c.420C>A
1 paper
NM_148975.3
p.S140R
c.420C>G
1 paper
NM_148975.3
p.L149*
c.446T>A
1 paper
NM_148975.3
p.L149S
c.446T>C
1 paper
NM_148975.3
p.I150fs
c.448_449fs
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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."