Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.F217L

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
1 paper
NM_021083.4
p.F217L
c.649T>C
Surrounding Variants
1 paper
NM_021083.4
p.F217L
c.651T>A
1 paper
NM_021083.4
p.F217L
c.651T>G
1 paper
NM_021083.4
p.W214*
c.642G>A
1 paper
NM_021083.4
p.W214*
c.641G>A
8 papers
NM_021083.4
p.R222G
c.664C>G
1 paper
NM_021083.4
p.R222*
c.664C>T
1 paper
NM_021083.4
p.R222Q
c.665G>A
1 paper
NM_021083.4
p.R222P
c.665G>C
1 paper
NM_021083.4
p.V225fs
c.673_674fs
1 paper
NM_021083.4
p.V225_L226Fs
c.675_676delinsGFs
1 paper
NM_021083.4
p.K202insFs
c.605_606insA
1 paper
NM_021083.4
p.L233fs
c.697_698fs
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