Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S275L

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.S275L
c.824C>T
Surrounding Variants
1 paper
NM_000420.3
p.S275*
c.824C>G
1 paper
NM_000420.3
p.S275*
c.824C>A
1 paper
NM_000420.3
p.S275A
c.823T>G
1 paper
NM_000420.3
p.I276F
c.826A>T
1 paper
NM_000420.3
p.I276V
c.826A>G
1 paper
NM_000420.3
p.I276L
c.826A>C
2 papers
NM_000420.3
p.L274*
c.821T>A
1 paper
NM_000420.3
p.I278F
c.832A>T
1 paper
NM_000420.3
p.I278V
c.832A>G
2 papers
NM_000420.3
p.I278L
c.832A>C
1 paper
NM_000420.3
p.S272F
c.815C>T
1 paper
NM_000420.3
p.S272C
c.815C>G
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