Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.V11A

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.V11A
c.32T>C
Surrounding Variants
1 paper
NM_021083.4
p.S10del1
c.28_29delTCC
1 paper
NM_021083.4
p.A5V
c.14C>T
1 paper
NM_021083.4
p.E17E
c.51G>A
1 paper
NM_021083.4
p.P4R
c.11C>G
1 paper
NM_021083.4
p.P4Fs
c.10delinsTATAGCTGTTATATAAAATTATTTAAFs
1 paper
NM_021083.4
p.P4delFs
c.10delC
1 paper
NM_021083.4
p.M1K
c.2T>A
1 paper
NM_021083.4
p.M1R
c.2T>G
1 paper
NM_021083.4
p.L24M
c.70C>A
1 paper
NM_021083.4
p.S25_S26delFs
c.75_76delCA
1 paper
NM_021083.4
p.Y28_S30del3
c.82_89del9
2 papers
NM_021083.4
p.Y28insFs
c.82_83insC
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