Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S726F

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.S726F
c.2177C>T
Surrounding Variants
1 paper
NM_000420.3
p.S726C
c.2177C>G
1 paper
NM_000420.3
p.S726A
c.2176T>G
3 papers
NM_000420.3
p.S726P
c.2176T>C
1 paper
NM_000420.3
p.S726T
c.2176T>A
1 paper
NM_000420.3
p.P725delFs
c.2175delG
1 paper
NM_000420.3
p.S726fs
c.2176_2177fs
1 paper
NM_000420.3
p.P725fs
c.2173_2174fs
1 paper
NM_000420.3
p.S727G
c.2179A>G
1 paper
NM_000420.3
p.S727I
c.2180G>T
1 paper
NM_000420.3
p.P725S
c.2173C>T
1 paper
NM_000420.3
p.P725A
c.2173C>G
1 paper
NM_000420.3
p.P725T
c.2173C>A
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