Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.R655G

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.R655G
c.1963C>G
Surrounding Variants
5 papers
NM_000420.3
p.R655W
c.1963C>T
1 paper
NM_000420.3
p.R655L
c.1964G>T
1 paper
NM_000420.3
p.R655P
c.1964G>C
2 papers
NM_000420.3
p.R655Q
c.1964G>A
1 paper
NM_000420.3
p.H656R
c.1967A>G
1 paper
NM_000420.3
p.H656P
c.1967A>C
1 paper
NM_000420.3
p.L653R
c.1958T>G
1 paper
NM_000420.3
p.L653P
c.1958T>C
1 paper
NM_000420.3
p.L653Q
c.1958T>A
1 paper
NM_000420.3
p.R652S
c.1956G>T
1 paper
NM_000420.3
p.R652S
c.1956G>C
1 paper
NM_000420.3
p.H657L
c.1970A>T
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