Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.I158delFs

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.I158delFs
c.474delA
Surrounding Variants
1 paper
NM_021083.4
p.M161L
c.481A>T
2 papers
NM_021083.4
p.Q155*
c.463C>T
1 paper
NM_021083.4
p.Q162*
c.484C>T
1 paper
NM_021083.4
p.L154delFs
c.460delC
1 paper
NM_021083.4
p.L152M
c.454C>A
1 paper
NM_021083.4
p.Q151delFs
c.452delA
1 paper
NM_021083.4
p.Q151fs
c.451_452fs
1 paper
NM_021083.4
p.Q151insFs
c.451dupC
1 paper
NM_021083.4
p.S170Splc
c.508+1G>A
2 papers
NM_021083.4
p.F145delFs
c.435delC
1 paper
NM_021083.4
p.S170Splc
c.508+5G>A
1 paper
NM_021083.4
p.V141fs
c.421_422fs
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