Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.G212G

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.G212G
c.636A>T
Surrounding Variants
1 paper
NM_000420.3
p.G212G
c.636A>G
1 paper
NM_000420.3
p.A216S
c.646G>T
1 paper
NM_000420.3
p.A216P
c.646G>C
1 paper
NM_000420.3
p.A216T
c.646G>A
1 paper
NM_000420.3
p.A209D
c.626C>A
1 paper
NM_000420.3
p.A209S
c.625G>T
1 paper
NM_000420.3
p.A209P
c.625G>C
1 paper
NM_000420.3
p.A209T
c.625G>A
1 paper
NM_000420.3
p.A216V
c.647C>T
1 paper
NM_000420.3
p.A216G
c.647C>G
1 paper
NM_000420.3
p.A216D
c.647C>A
1 paper
NM_000420.3
p.S217F
c.650C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."