Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.G73S

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.G73S
c.217G>A
Surrounding Variants
2 papers
NM_000420.3
p.C72S
c.215G>C
1 paper
NM_000420.3
p.C72R
c.214T>C
2 papers
NM_000420.3
p.C72S
c.214T>A
1 paper
NM_000420.3
p.P74S
c.220C>T
1 paper
NM_000420.3
p.P74T
c.220C>A
1 paper
NM_000420.3
p.R75Splc
c.223+1G>T
4 papers
NM_000420.3
p.R75Splc
c.223+1G>C
9 papers
NM_000420.3
p.R75Splc
c.223+1G>A
1 paper
NM_000420.3
p.Q70L
c.209A>T
1 paper
NM_000420.3
p.Y67H
c.199T>C
1 paper
NM_000420.3
p.F66C
c.197T>G
1 paper
NM_000420.3
p.L65V
c.193T>G
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