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

1–12 of 86 variants

6 papers

NM_001395490.1

p.C834S

c.2500T>A

5 papers

NM_001395490.1

p.C834S

c.2501G>C

2 papers

NM_001395490.1

p.H56N

c.166C>A

2 papers

NM_001395490.1

p.A110fs

c.328_329fs

2 papers

NM_001395490.1

p.V159D

c.476T>A

2 papers

NM_001395490.1

p.P989P

c.2967A>G

2 papers

NM_001395490.1

p.T998M

c.2993C>T

1 paper

NM_001395490.1

p.A13T

c.37G>A

1 paper

NM_001395490.1

p.H14R

c.41A>G

1 paper

NM_001395490.1

p.P24S

c.70C>T

1 paper

NM_001395490.1

p.V28A

c.83T>C

1 paper

NM_001395490.1

p.G43S

c.127G>A