Varaico: Literature-Extracted Genetic Variants

KLHDC8A

24 papers

RefSeq Summary

This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressivene...

Pfam Domains

Kelch_1aa 20–66UCSCKelch motif

Kelch_1aa 68–111UCSCKelch motif

Kelch_KLHDC2_KLHL20_DRC7aa 119–333UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 8A

HGNC Alias Symbol

FLJ10748

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018203.3

p.G285R

c.853G>C

Surrounding Variants

1 paper

NM_018203.3

p.G285R

c.853G>A

1 paper

NM_018203.3

p.G278G

c.834A>C

1 paper

NM_018203.3

p.S275F

c.824C>T

1 paper

NM_018203.3

p.F271L

c.813T>G

1 paper

NM_018203.3

p.F271L

c.813T>A

1 paper

NM_018203.3

p.F271L

c.811T>C

1 paper

NM_018203.3

p.R267W

c.799C>T

1 paper

NM_018203.3

p.R260*

c.778C>T

1 paper

NM_018203.3

p.G253Splc

c.758-1G>A

1 paper

NM_018203.3

p.F248Y

c.743T>A

1 paper

NM_018203.3

p.G229D

c.686G>A

2 papers

NM_018203.3

p.E193K

c.577G>A