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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KEL

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 1672 variants

36 papers

chr7:142957921 G>A

NM_000420.3

p.T193M

c.578C>T

Peptidase_M13_N

Exome: 3.7% (AC=53573, hom=1116)Genome: 2.6% (AC=3968, hom=70)31 overlapping SVs

18 papers

chr7:142954267 G>A

NM_000420.3

p.R281W

c.841C>T

Peptidase_M13_N

Exome: 1.0% (AC=13977, hom=77)Genome: 0.7% (AC=1037, hom=5)31 overlapping SVs

16 papers

chr7:142943026 A>G

NM_000420.3

p.L597P

c.1790T>C

Peptidase_M13

Exome: 0.3% (AC=4217, hom=147)Genome: 2.5% (AC=3816, hom=165)32 overlapping SVs

10 papers

chr7:142944333 T>A

NM_000420.3

p.E494V

c.1481A>T

Exome: 0.1% (AC=1026, hom=7)Genome: 0.1% (AC=180, hom=1)31 overlapping SVs

9 papers

chr7:142962205 A>G

NM_000420.3

p.M1T

c.2T>C

Exome: 0.0% (AC=423, hom=4)Genome: 0.0% (AC=40, hom=0)31 overlapping SVs

9 papers

chr7:142961359 C>T

NM_000420.3

p.R75Splc

c.223+1G>A

Exome: 0.0% (AC=212, hom=0)Genome: 0.0% (AC=10, hom=0)31 overlapping SVs

9 papers

chr7:142954203 A>G

NM_000420.3

p.V302A

c.905T>C

Peptidase_M13_N

Exome: 0.2% (AC=2373, hom=3)Genome: 0.1% (AC=139, hom=0)31 overlapping SVs

9 papers

chr7:142941344 C>G

NM_000420.3

p.G703R

c.2107G>C

Peptidase_M13

Exome: 0.0% (AC=41, hom=1)Genome: 0.0% (AC=9, hom=0)31 overlapping SVs

9 papers

chr7:142941344 C>T

NM_000420.3

p.G703R

c.2107G>A

Peptidase_M13

Exome: 0.0% (AC=120, hom=0)Genome: 0.0% (AC=6, hom=0)31 overlapping SVs

8 papers

chr7:142954233 C>T

NM_000420.3

p.R292Q

c.875G>A

Peptidase_M13_N

Exome: 0.0% (AC=537, hom=4)Genome: 0.0% (AC=36, hom=0)31 overlapping SVs

8 papers

chr7:142954231 G>A

NM_000420.3

p.R293W

c.877C>T

Peptidase_M13_N

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=12, hom=0)31 overlapping SVs

8 papers

chr7:142942444 C>T

NM_000420.3

p.S676N

c.2027G>A

Peptidase_M13

Exome: 0.0% (AC=5, hom=0)Genome: n/a31 overlapping SVs

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