Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.L351*

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.L351*
c.1052T>A
Surrounding Variants
1 paper
NM_021083.4
p.P349S
c.1045C>T
3 papers
NM_021083.4
p.C347S
c.1040G>C
3 papers
NM_021083.4
p.C347S
c.1039T>A
1 paper
NM_021083.4
p.G358A
c.1073G>C
1 paper
NM_021083.4
p.F338fs
c.1012_1013fs
1 paper
NM_021083.4
p.F338delFs
c.1013delT
2 papers
NM_021083.4
p.F369S
c.1106T>C
1 paper
NM_021083.4
p.L333F
c.997C>T
3 papers
NM_021083.4
p.Y370D
c.1108T>G
1 paper
NM_021083.4
p.Q371R
c.1112A>G
1 paper
NM_021083.4
p.F372delFs
c.1114_1115delTT
1 paper
NM_021083.4
p.L333_L334ins0
c.999_1001dupCCT
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