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.A110delFs

c.328delC

Surrounding Variants

2 papers

NM_001395490.1

p.A110fs

c.328_329fs

1 paper

NM_001395490.1

p.G119D

c.356G>A

1 paper

NM_001395490.1

p.Y120C

c.359A>G

1 paper

NM_001395490.1

p.R98H

c.293G>A

1 paper

NM_001395490.1

p.G86A

c.257G>C

1 paper

NM_001395490.1

p.V139F

c.415G>T

1 paper

NM_001395490.1

p.L67*

c.200T>A

2 papers

NM_001395490.1

p.V159D

c.476T>A

2 papers

NM_001395490.1

p.H56N

c.166C>A

1 paper

NM_001395490.1

p.D174E

c.522T>G

1 paper

NM_001395490.1

p.D174E

c.522T>A

1 paper

NM_001395490.1

p.A176V

c.527C>T