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.G1104S

c.3310G>A

Surrounding Variants

1 paper

NM_033502.4

p.G1063R

c.3187G>C

1 paper

NM_033502.4

p.G1063R

c.3187G>A

1 paper

NM_033502.4

p.K1056Q

c.3166A>C

1 paper

NM_001395490.1

p.T1056P

c.3166A>C

1 paper

NM_001395490.1

p.P1018L

c.3053C>T

1 paper

NM_001395490.1

p.P1002S

c.3004C>T

2 papers

NM_001395490.1

p.T998M

c.2993C>T

2 papers

NM_001395490.1

p.P989P

c.2967A>G

1 paper

NM_001395490.1

p.E967_D968del1

c.2901_2903delTCC

1 paper

NM_001395490.1

p.A1131V

c.3392C>T

1 paper

NM_033502.4

p.V1139L

c.3415G>T

1 paper

NM_033502.4

p.V1139L

c.3415G>C