Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S676N

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
8 papers
NM_000420.3
p.S676N
c.2027G>A
Surrounding Variants
1 paper
NM_000420.3
p.S676I
c.2027G>T
1 paper
NM_000420.3
p.S676T
c.2027G>C
1 paper
NM_000420.3
p.R675L
c.2024G>T
1 paper
NM_000420.3
p.R675P
c.2024G>C
3 papers
NM_000420.3
p.R675Q
c.2024G>A
1 paper
NM_000420.3
p.Y677F
c.2030A>T
4 papers
NM_000420.3
p.Y677C
c.2030A>G
1 paper
NM_000420.3
p.Y677S
c.2030A>C
4 papers
NM_000420.3
p.R675*
c.2023C>T
1 paper
NM_000420.3
p.A678S
c.2032G>T
1 paper
NM_000420.3
p.A678P
c.2032G>C
1 paper
NM_000420.3
p.A678T
c.2032G>A
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