Varaico: Literature-Extracted Genetic Variants

KBTBD7

36 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a ...

Pfam Domains

BTBaa 53–168UCSCBTB/POZ domain

BACKaa 173–278UCSCBTB And C-terminal Kelch

Kelch_1aa 424–471UCSCKelch motif

KBTB_W-LIRaa 663–674UCSCKBTB, W-type LIR motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 7

HGNC Alias Symbol

DKFZP434E2318

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

3 papers

NM_032138.7

p.R546W

c.1636C>T

2 papers

NM_032138.7

p.Q142E

c.424C>G

2 papers

NM_032138.7

p.D184N

c.550G>A

2 papers

NM_032138.7

p.C519R

c.1555T>C

2 papers

NM_032138.7

p.R617C

c.1849C>T

1 paper

NM_032138.7

p.G18S

c.52G>A

1 paper

NM_032138.7

p.R21G

c.61C>G

1 paper

NM_032138.7

p.F33L

c.97T>C

1 paper

NM_032138.7

p.F33C

c.98T>G

1 paper

NM_032138.7

p.F33L

c.99T>G

1 paper

NM_032138.7

p.F33L

c.99T>A

1 paper

NM_032138.7

p.F56_Y57del1

c.167_169delAGA