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

Selected Variant

1 paper

NM_032138.7

p.R266C

c.796C>T

Surrounding Variants

1 paper

NM_032138.7

p.A251P

c.751G>C

1 paper

NM_032138.7

p.Q300H

c.900G>T

1 paper

NM_032138.7

p.Q300H

c.900G>C

1 paper

NM_032138.7

p.R227R

c.681C>A

1 paper

NM_032138.7

p.S321del1

c.961_962delACT

1 paper

NM_032138.7

p.S326Y

c.977C>A

2 papers

NM_032138.7

p.D184N

c.550G>A

1 paper

NM_032138.7

p.H351_P352delins

c.1053_1056delinsCCCC

1 paper

NM_032138.7

p.D354Y

c.1060G>T

1 paper

NM_032138.7

p.I366M

c.1098T>G

1 paper

NM_032138.7

p.R157W

c.469C>T

2 papers

NM_032138.7

p.Q142E

c.424C>G