Varaico: Literature-Extracted Genetic Variants

Gene:XKRX

XKRX

25 papers

RefSeq Summary

This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to ...

Pfam Domains

XK-relatedaa 35–407UCSCXK-related protein

Gene Aliases

HGNC Name

XK related X-linked

HGNC Alias Symbols

XPLAC; XKR2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
2 papers
NM_212559.3
p.R165H
c.494G>A
1 paper
NM_212559.3
p.R30*
c.88C>T
1 paper
NM_212559.3
p.F42I
c.124T>A
1 paper
NM_212559.3
p.W124*
c.371G>A
1 paper
NM_212559.3
p.E128E
c.384G>A
1 paper
NM_212559.3
p.R138*
c.412C>T
1 paper
NM_212559.3
p.G155D
c.464G>A
1 paper
NM_212559.3
p.N166S
c.497A>G
1 paper
NM_212559.3
p.K169T
c.506A>C
1 paper
NM_212559.3
p.K227Q
c.679A>C
1 paper
NM_212559.3
p.Y231N
c.691T>A
1 paper
NM_212559.3
p.R247Q
c.740G>A
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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."