Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.C48S

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.C48S
c.142T>A
Surrounding Variants
1 paper
NM_021083.4
p.C48S
c.143G>C
1 paper
NM_021083.4
p.C48F
c.143G>T
1 paper
NM_021083.4
p.A49P
c.145G>C
1 paper
NM_021083.4
p.V51insFs
c.151_152insC
2 papers
NM_021083.4
p.Q52*
c.154C>T
2 papers
NM_021083.4
p.L41V
c.121T>G
1 paper
NM_021083.4
p.Q37H
c.111G>C
1 paper
NM_021083.4
p.H59N
c.175C>A
1 paper
NM_021083.4
p.W36*
c.108G>A
1 paper
NM_021083.4
p.H59Q
c.177C>A
1 paper
NM_021083.4
p.H59Q
c.177C>G
1 paper
NM_021083.4
p.W36*
c.107G>A
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