Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.L65V

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.L65V
c.193T>G
Surrounding Variants
1 paper
NM_000420.3
p.F66C
c.197T>G
1 paper
NM_000420.3
p.V63G
c.188T>G
1 paper
NM_000420.3
p.Y67H
c.199T>C
3 papers
NM_000420.3
p.S62fs
c.184_185fs
2 papers
NM_000420.3
p.S62F
c.185C>T
5 papers
NM_000420.3
p.S62insFs
c.185_186insT
1 paper
NM_000420.3
p.S62delFs
c.184delA
1 paper
NM_000420.3
p.S62fs
c.184_185fs
1 paper
NM_000420.3
p.C60Y
c.179G>A
1 paper
NM_000420.3
p.Q70L
c.209A>T
1 paper
NM_000420.3
p.L59H
c.176T>A
1 paper
NM_000420.3
p.L58P
c.173T>C
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."