Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.Y28insFs

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
2 papers
NM_021083.4
p.Y28insFs
c.82_83insC
Surrounding Variants
1 paper
NM_021083.4
p.Y28_S30del3
c.82_89del9
1 paper
NM_021083.4
p.S30*
c.89C>A
1 paper
NM_021083.4
p.S25_S26delFs
c.75_76delCA
1 paper
NM_021083.4
p.L24M
c.70C>A
1 paper
NM_021083.4
p.W36*
c.107G>A
1 paper
NM_021083.4
p.W36*
c.108G>A
1 paper
NM_021083.4
p.Q37H
c.111G>C
1 paper
NM_021083.4
p.E17E
c.51G>A
2 papers
NM_021083.4
p.L41V
c.121T>G
1 paper
NM_021083.4
p.V11A
c.32T>C
1 paper
NM_021083.4
p.S10del1
c.28_29delTCC
1 paper
NM_021083.4
p.C48S
c.142T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."