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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLHDC8B

Variant:p.M128L

KLHDC8B

30 papers

RefSeq Summary

This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin...

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 119–336UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 8B

HGNC Alias Symbol

MGC35097

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:49174244 A>C

NM_173546.3

p.M128L

c.382A>C

Kelch_KLHDC2_KLHL20_DRC7

exact variant not in gnomAD55 overlapping SVs

Surrounding Variants

1 paper

chr3:49174244 A>T

NM_173546.3

p.M128L

c.382A>T

Kelch_KLHDC2_KLHL20_DRC7

exact variant not in gnomAD55 overlapping SVs

1 paper

chr3:49174239 A>G

NM_173546.3

p.D126G

c.377A>G

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=1, hom=0)Genome: n/a55 overlapping SVs

1 paper

chr3:49174251 A>G

NM_173546.3

p.Y130C

c.389A>G

Kelch_KLHDC2_KLHL20_DRC7

exact variant not in gnomAD55 overlapping SVs

1 paper

chr3:49174259 G>A

NM_173546.3

p.G133R

c.397G>A

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=1, hom=0)Genome: n/a55 overlapping SVs

1 paper

chr3:49174259 G>C

NM_173546.3

p.G133R

c.397G>C

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=2, hom=0)Genome: n/a55 overlapping SVs

1 paper

chr3:49174280 G>GN

NM_173546.3

p.A140fs

c.418_419fs

Kelch_KLHDC2_KLHL20_DRC7

exact variant not in gnomAD55 overlapping SVs

1 paper

chr3:49174280 GC>G

NM_173546.3

p.A140delFs

c.419delC

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=1, hom=0)Genome: n/a55 overlapping SVs

1 paper

chr3:49174286 C>T

NM_173546.3

p.Q142*

c.424C>T

Kelch_KLHDC2_KLHL20_DRC7

Exome: n/aGenome: 0.0% (AC=1, hom=0)55 overlapping SVs

1 paper

chr3:49174332 C>T

NM_173546.3

p.S157L

c.470C>T

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=37, hom=1)Genome: 0.0% (AC=3, hom=0)55 overlapping SVs

1 paper

chr3:49174340 T>G

NM_173546.3

p.S160A

c.478T>G

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=103, hom=0)Genome: 0.0% (AC=12, hom=0)55 overlapping SVs

1 paper

chr3:49174372 C>A

NM_173546.3

p.T170T

c.510C>A

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=2, hom=0)Genome: n/a55 overlapping SVs

1 paper

chr3:49174401 T>C

NM_173546.3

p.L180P

c.539T>C

Kelch_KLHDC2_KLHL20_DRC7

Exome: 0.0% (AC=1, hom=0)Genome: n/a55 overlapping SVs

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