Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.C294R

XK

207 papers

RefSeq Summary

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by...

Pfam Domains

XK-relatedaa 5–375UCSCXK-related protein

Gene Aliases

HGNC Name

X-linked Kx blood group antigen, Kell and VPS13A binding protein

HGNC Previous Symbols

NA; NAC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021083.4
p.C294R
c.880T>C
Surrounding Variants
1 paper
NM_021083.4
p.N291S
c.872A>G
8 papers
NM_021083.4
p.Q299*
c.895C>T
1 paper
NM_021083.4
p.G289S
c.865G>A
3 papers
NM_021083.4
p.L286_Y287delFs
c.856_860del5
1 paper
NM_021083.4
p.C281R
c.841T>C
1 paper
NM_021083.4
p.G275D
c.824G>A
5 papers
NM_021083.4
p.W314*
c.941G>A
5 papers
NM_021083.4
p.W314*
c.942G>A
1 paper
NM_021083.4
p.E268K
c.802G>A
1 paper
NM_021083.4
p.Y321C
c.962A>G
1 paper
NM_021083.4
p.N266delFs
c.797delA
1 paper
NM_021083.4
p.I323_R324ins10
c.967_971ins30
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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."