Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.T660I

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.T660I
c.1979C>T
Surrounding Variants
1 paper
NM_000420.3
p.T660S
c.1979C>G
1 paper
NM_000420.3
p.T660N
c.1979C>A
1 paper
NM_000420.3
p.T660S
c.1978A>T
1 paper
NM_000420.3
p.V661F
c.1981G>T
1 paper
NM_000420.3
p.E659D
c.1977G>T
1 paper
NM_000420.3
p.E659fs
c.1975_1976fs
1 paper
NM_000420.3
p.V661L
c.1981G>C
1 paper
NM_000420.3
p.E659D
c.1977G>C
1 paper
NM_000420.3
p.V661I
c.1981G>A
1 paper
NM_000420.3
p.E659delFs
c.1975delC
1 paper
NM_000420.3
p.E659*
c.1975G>T
1 paper
NM_000420.3
p.E659Q
c.1975G>C
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