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.E629K

c.1885G>A

Surrounding Variants

1 paper

NM_001395490.1

p.P644R

c.1931C>G

1 paper

NM_001395490.1

p.R655R

c.1965G>T

1 paper

NM_001395490.1

p.P666T

c.1996C>A

1 paper

NM_001395490.1

p.T681I

c.2042C>T

1 paper

NM_001395490.1

p.R691H

c.2072G>A

1 paper

NM_001395490.1

p.G694R

c.2080G>C

1 paper

NM_001395490.1

p.G694R

c.2080G>A

1 paper

NM_001395490.1

p.T709M

c.2126C>T

1 paper

NM_001395490.1

p.R718H

c.2153G>A

1 paper

NM_001395490.1

p.S721L

c.2162C>T

1 paper

NM_001395490.1

p.A736delFs

c.2207delG

1 paper

NM_001395490.1

p.P792S

c.2374C>T