Varaico: Literature-Extracted Genetic Variants

Gene:XKRX
Variant:p.K227Q

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
Selected Variant
1 paper
NM_212559.3
p.K227Q
c.679A>C
Surrounding Variants
1 paper
NM_212559.3
p.Y231N
c.691T>A
1 paper
NM_212559.3
p.R247Q
c.740G>A
1 paper
NM_212559.3
p.S253P
c.757T>C
1 paper
NM_212559.3
p.R254C
c.760C>T
1 paper
NM_212559.3
p.R254H
c.761G>A
1 paper
NM_212559.3
p.G292S
c.874G>A
1 paper
NM_212559.3
p.R305Q
c.914G>A
1 paper
NM_212559.3
p.L318H
c.953T>A
1 paper
NM_212559.3
p.A335E
c.1004C>A
1 paper
NM_212559.3
p.Y353N
c.1057T>A
1 paper
NM_212559.3
p.G371A
c.1112G>C
1 paper
NM_212559.3
p.I395S
c.1184T>G
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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."