Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S266I

KEL

327 papers

RefSeq Summary

This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that ...

Pfam Domains

Peptidase_M13_Naa 99–482UCSCPeptidase family M13
Peptidase_M13aa 540–731UCSCPeptidase family M13

Gene Aliases

HGNC Name

Kell metallo-endopeptidase

HGNC Alias Symbols

ECE3; CD238

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000420.3
p.S266I
c.797G>T
Surrounding Variants
1 paper
NM_000420.3
p.S266R
c.798C>G
1 paper
NM_000420.3
p.S266R
c.798C>A
1 paper
NM_000420.3
p.S266R
c.796A>C
1 paper
NM_000420.3
p.P265S
c.793C>T
4 papers
NM_000420.3
p.V268L
c.802G>T
4 papers
NM_000420.3
p.V268L
c.802G>C
1 paper
NM_000420.3
p.V268M
c.802G>A
1 paper
NM_000420.3
p.D264E
c.792C>G
1 paper
NM_000420.3
p.D264E
c.792C>A
1 paper
NM_000420.3
p.V268A
c.803T>C
1 paper
NM_000420.3
p.G263V
c.788G>T
1 paper
NM_000420.3
p.G263A
c.788G>C
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