Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.F283L

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.F283L
c.849C>G
Surrounding Variants
1 paper
NM_000420.3
p.F283L
c.849C>A
1 paper
NM_000420.3
p.Q284*
c.850C>T
1 paper
NM_000420.3
p.F283L
c.847T>C
1 paper
NM_000420.3
p.Q284R
c.851A>G
1 paper
NM_000420.3
p.L282L
c.846G>C
1 paper
NM_000420.3
p.R281L
c.842G>T
1 paper
NM_000420.3
p.R281P
c.842G>C
5 papers
NM_000420.3
p.R281Q
c.842G>A
1 paper
NM_000420.3
p.L286fs
c.856_857fs
2 papers
NM_000420.3
p.F285delFs
c.855delA
18 papers
NM_000420.3
p.R281W
c.841C>T
1 paper
NM_000420.3
p.R281G
c.841C>G
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