Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.E85delFs

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.E85delFs
c.255delA
Surrounding Variants
1 paper
NM_021083.4
p.F87V
c.259T>G
2 papers
NM_021083.4
p.R82Splc
c.246-1G>A
2 papers
NM_021083.4
p.Y90delFs
c.268delT
1 paper
NM_021083.4
p.Y90fs
c.268_269fs
1 paper
NM_021083.4
p.F91I
c.271T>A
1 paper
NM_021083.4
p.S102T
c.305G>C
2 papers
NM_021083.4
p.Q108insFs
c.322_323insGT
1 paper
NM_021083.4
p.Q108insFs
c.323_324ins10
1 paper
NM_021083.4
p.S115T
c.343T>A
1 paper
NM_021083.4
p.E119A
c.356A>C
1 paper
NM_021083.4
p.Q124*
c.370C>T
1 paper
NM_021083.4
p.Q124delFs
c.371delA
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