Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.C717G

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.C717G
c.2149T>G
Surrounding Variants
1 paper
NM_000420.3
p.C717R
c.2149T>C
1 paper
NM_000420.3
p.C717S
c.2149T>A
1 paper
NM_000420.3
p.C717F
c.2150G>T
1 paper
NM_000420.3
p.C717S
c.2150G>C
1 paper
NM_000420.3
p.C717Y
c.2150G>A
1 paper
NM_000420.3
p.R716L
c.2147G>T
1 paper
NM_000420.3
p.R716P
c.2147G>C
4 papers
NM_000420.3
p.R716H
c.2147G>A
1 paper
NM_000420.3
p.A718S
c.2152G>T
1 paper
NM_000420.3
p.A718T
c.2152G>A
1 paper
NM_000420.3
p.R716C
c.2146C>T
1 paper
NM_000420.3
p.R716G
c.2146C>G
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