Varaico: Literature-Extracted Genetic Variants

TRERF1

86 papers

RefSeq Summary

This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encodi...

Pfam Domains

zf-C2H2_6aa 513–535UCSCC2H2-type zinc finger

ELM2aa 781–835UCSCELM2 domain

zf-C2H2_6aa 1018–1037UCSCC2H2-type zinc finger

zf-C2H2_6aa 1105–1131UCSCC2H2-type zinc finger

Gene Aliases

HGNC Name

transcriptional regulating factor 1

HGNC Previous Symbol

BCAR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001395490.1

p.G886S

c.2656G>A

Surrounding Variants

1 paper

NM_001395490.1

p.R944H

c.2831G>A

1 paper

NM_001395490.1

p.R942_R944ins1

c.2826_2831dup6

1 paper

NM_001395490.1

p.V953V

c.2859G>T

1 paper

NM_001395490.1

p.G886S

c.2656G>A