Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.N627I

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.N627I
c.1880A>T
Surrounding Variants
1 paper
NM_000420.3
p.N627S
c.1880A>G
1 paper
NM_000420.3
p.N627T
c.1880A>C
1 paper
NM_000420.3
p.D628Y
c.1882G>T
1 paper
NM_000420.3
p.D628V
c.1883A>T
1 paper
NM_000420.3
p.D628G
c.1883A>G
1 paper
NM_000420.3
p.S625F
c.1874C>T
1 paper
NM_000420.3
p.S625C
c.1874C>G
1 paper
NM_000420.3
p.S629Y
c.1886C>A
1 paper
NM_000420.3
p.S625Y
c.1874C>A
1 paper
NM_000420.3
p.L630F
c.1888C>T
1 paper
NM_000420.3
p.L630V
c.1888C>G
1 paper
NM_000420.3
p.L630I
c.1888C>A
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