Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.Q124delFs

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.Q124delFs
c.371delA
Surrounding Variants
1 paper
NM_021083.4
p.Q124*
c.370C>T
1 paper
NM_021083.4
p.E119A
c.356A>C
8 papers
NM_021083.4
p.R133*
c.397C>T
1 paper
NM_021083.4
p.S115T
c.343T>A
1 paper
NM_021083.4
p.A139P
c.415G>C
1 paper
NM_021083.4
p.Q108insFs
c.323_324ins10
2 papers
NM_021083.4
p.Q108insFs
c.322_323insGT
1 paper
NM_021083.4
p.S140T
c.418T>A
1 paper
NM_021083.4
p.V141delFs
c.422_423delTG
1 paper
NM_021083.4
p.V141fs
c.421_422fs
2 papers
NM_021083.4
p.F145delFs
c.435delC
1 paper
NM_021083.4
p.S102T
c.305G>C
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