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

1–12 of 28 variants

2 papers

NM_018203.3

p.E193K

c.577G>A

1 paper

NM_018203.3

p.R13R

c.39C>A

1 paper

NM_018203.3

p.G38fs

c.112_113fs

1 paper

NM_018203.3

p.G38delFs

c.113delC

1 paper

NM_018203.3

p.P45S

c.133C>T

1 paper

NM_018203.3

p.A56V

c.167C>T

1 paper

NM_018203.3

p.A70G

c.209C>G

1 paper

NM_018203.3

p.I84T

c.251T>C

1 paper

NM_018203.3

p.G133G

c.399C>G

1 paper

NM_018203.3

p.M135V

c.403A>G

1 paper

NM_018203.3

p.R140H

c.419G>A

1 paper

NM_018203.3

p.M150I

c.450G>T