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.P370S

c.1108C>T

Surrounding Variants

1 paper

NM_001395490.1

p.T365A

c.1093A>G

1 paper

NM_001395490.1

p.Q380fs

c.1138_1139fs

1 paper

NM_001395490.1

p.P382R

c.1145C>G

1 paper

NM_001395490.1

p.H395P

c.1184A>C

1 paper

NM_001395490.1

p.Q415*

c.1243C>T

1 paper

NM_001395490.1

p.P302L

c.905C>T

1 paper

NM_001395490.1

p.H450P

c.1349A>C

1 paper

NM_001395490.1

p.P452L

c.1355C>T

1 paper

NM_001395490.1

p.L453R

c.1358T>G

1 paper

NM_001395490.1

p.Q268*

c.802C>T

1 paper

NM_001395490.1

p.A475V

c.1424C>T

1 paper

NM_001395490.1

p.P244S

c.730C>T