Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S199N

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.S199N
c.596G>A
Surrounding Variants
1 paper
NM_000420.3
p.S199R
c.597T>G
1 paper
NM_000420.3
p.S199R
c.597T>A
1 paper
NM_000420.3
p.S199G
c.595A>G
1 paper
NM_000420.3
p.S199R
c.595A>C
1 paper
NM_000420.3
p.M198I
c.594G>T
1 paper
NM_000420.3
p.M198I
c.594G>C
2 papers
NM_000420.3
p.M198I
c.594G>A
1 paper
NM_000420.3
p.Q200E
c.598C>G
1 paper
NM_000420.3
p.M198T
c.593T>C
1 paper
NM_000420.3
p.Q200R
c.599A>G
1 paper
NM_000420.3
p.Q200P
c.599A>C
1 paper
NM_000420.3
p.M198L
c.592A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."