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.V449I

c.1345G>A

Surrounding Variants

1 paper

NM_032138.7

p.D444N

c.1330G>A

1 paper

NM_032138.7

p.N434H

c.1300A>C

1 paper

NM_032138.7

p.A468T

c.1402G>A

1 paper

NM_032138.7

p.R425C

c.1273C>T

1 paper

NM_032138.7

p.K403T

c.1208A>C

1 paper

NM_032138.7

p.P499R

c.1496C>G

2 papers

NM_032138.7

p.C519R

c.1555T>C

1 paper

NM_032138.7

p.I366M

c.1098T>G

1 paper

NM_032138.7

p.V536D

c.1607T>A

1 paper

NM_032138.7

p.A540S

c.1618G>T

1 paper

NM_032138.7

p.D354Y

c.1060G>T

1 paper

NM_032138.7

p.H351_P352delins

c.1053_1056delinsCCCC