Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.C347S

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.C347S
c.1040G>C
Surrounding Variants
3 papers
NM_021083.4
p.C347S
c.1039T>A
1 paper
NM_021083.4
p.P349S
c.1045C>T
1 paper
NM_021083.4
p.L351*
c.1052T>A
1 paper
NM_021083.4
p.F338fs
c.1012_1013fs
1 paper
NM_021083.4
p.F338delFs
c.1013delT
1 paper
NM_021083.4
p.G358A
c.1073G>C
1 paper
NM_021083.4
p.L333F
c.997C>T
1 paper
NM_021083.4
p.L333_L334ins0
c.999_1001dupCCT
6 papers
NM_021083.4
p.E327K
c.979G>A
2 papers
NM_021083.4
p.F369S
c.1106T>C
3 papers
NM_021083.4
p.Y370D
c.1108T>G
1 paper
NM_021083.4
p.R324*
c.970A>T
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."