Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.S482L

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.S482L
c.1445C>T
Surrounding Variants
1 paper
NM_000420.3
p.A481S
c.1441G>T
1 paper
NM_000420.3
p.A481P
c.1441G>C
1 paper
NM_000420.3
p.A481T
c.1441G>A
1 paper
NM_000420.3
p.G480V
c.1439G>T
1 paper
NM_000420.3
p.G480A
c.1439G>C
1 paper
NM_000420.3
p.G480E
c.1439G>A
1 paper
NM_000420.3
p.G480R
c.1438G>A
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
1 paper
NM_000420.3
p.M479V
c.1435A>G
1 paper
NM_000420.3
p.L486V
c.1456C>G
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