Varaico: Literature-Extracted Genetic Variants

Gene:XK
Variant:p.W253fs

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.W253fs
c.757_758fs
Surrounding Variants
2 papers
NM_021083.4
p.W253fs
c.757_758fs
1 paper
NM_021083.4
p.W253delFs
c.757delT
1 paper
NM_021083.4
p.W253*
c.758G>A
1 paper
NM_021083.4
p.W253*
c.759G>A
2 papers
NM_021083.4
p.P252delFs
c.756delC
1 paper
NM_021083.4
p.L250W
c.749T>G
1 paper
NM_021083.4
p.P264L
c.791C>T
1 paper
NM_021083.4
p.I241delFs
c.722delT
1 paper
NM_021083.4
p.N266delFs
c.797delA
2 papers
NM_021083.4
p.V239F
c.715G>T
1 paper
NM_021083.4
p.E268K
c.802G>A
1 paper
NM_021083.4
p.W236*
c.708G>A
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