Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.T631K

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.T631K
c.1892C>A
Surrounding Variants
1 paper
NM_000420.3
p.T631I
c.1892C>T
1 paper
NM_000420.3
p.T631R
c.1892C>G
1 paper
NM_000420.3
p.L630F
c.1888C>T
1 paper
NM_000420.3
p.L630V
c.1888C>G
1 paper
NM_000420.3
p.L630I
c.1888C>A
2 papers
NM_000420.3
p.L633fs
c.1897_1898fs
1 paper
NM_000420.3
p.L633S
c.1898T>C
2 papers
NM_000420.3
p.F632_L633delFs
c.1896_1897delAG
1 paper
NM_000420.3
p.S629Y
c.1886C>A
2 papers
NM_000420.3
p.L633L
c.1899A>G
1 paper
NM_000420.3
p.D628V
c.1883A>T
1 paper
NM_000420.3
p.D628G
c.1883A>G
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