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

6 papers

NM_001395490.1

p.C834S

c.2500T>A

Surrounding Variants

5 papers

NM_001395490.1

p.C834S

c.2501G>C

1 paper

NM_001395490.1

p.L849L

c.2545T>C

1 paper

NM_001395490.1

p.S851T

c.2551T>A

1 paper

NM_001395490.1

p.H805Q

c.2415C>G

1 paper

NM_001395490.1

p.H805Q

c.2415C>A

1 paper

NM_001395490.1

p.D803G

c.2408A>G

1 paper

NM_001395490.1

p.P792S

c.2374C>T

1 paper

NM_001395490.1

p.G886S

c.2656G>A

1 paper

NM_001395490.1

p.A736delFs

c.2207delG

1 paper

NM_001395490.1

p.S721L

c.2162C>T

1 paper

NM_001395490.1

p.R718H

c.2153G>A

1 paper

NM_001395490.1

p.T709M

c.2126C>T