Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S695G

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.S695G
c.2083A>G
Surrounding Variants
1 paper
NM_000420.3
p.S695C
c.2083A>T
1 paper
NM_000420.3
p.S695R
c.2083A>C
2 papers
NM_000420.3
p.H694Q
c.2082C>G
2 papers
NM_000420.3
p.H694Q
c.2082C>A
1 paper
NM_000420.3
p.S695R
c.2085C>G
1 paper
NM_000420.3
p.S695R
c.2085C>A
1 paper
NM_000420.3
p.P696S
c.2086C>T
1 paper
NM_000420.3
p.H694Y
c.2080C>T
1 paper
NM_000420.3
p.P696A
c.2086C>G
1 paper
NM_000420.3
p.H694D
c.2080C>G
1 paper
NM_000420.3
p.P696T
c.2086C>A
1 paper
NM_000420.3
p.H694N
c.2080C>A
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