Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.K471_V472Splc

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
2 papers
NM_000420.3
p.K471_V472Splc
c.1414-1G>C
Surrounding Variants
1 paper
NM_000420.3
p.K471_V472Splc
c.1414-1G>T
3 papers
NM_000420.3
p.Q474*
c.1420C>T
3 papers
NM_000420.3
p.Q476*
c.1426C>T
1 paper
NM_000420.3
p.Q476E
c.1426C>G
2 papers
NM_000420.3
p.Q476K
c.1426C>A
1 paper
NM_000420.3
p.V477L
c.1429G>T
1 paper
NM_000420.3
p.V477L
c.1429G>C
2 papers
NM_000420.3
p.V477M
c.1429G>A
1 paper
NM_000420.3
p.M479V
c.1435A>G
2 papers
NM_000420.3
p.M479I
c.1437G>T
2 papers
NM_000420.3
p.M479I
c.1437G>C
2 papers
NM_000420.3
p.M479I
c.1437G>A
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