Varaico: Literature-Extracted Genetic Variants

ETS1

318 papers

RefSeq Summary

This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in...

Pfam Domains

SAM_PNTaa 53–136UCSCSterile alpha motif (SAM)/Pointed domain

Ets1_N_flankaa 147–334UCSCEts1 N-terminal flanking region of Ets domain

Etsaa 334–415UCSCEts-domain

Gene Aliases

HGNC Name

ETS proto-oncogene 1, transcription factor

HGNC Previous Symbol

EWSR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001143820.2

p.Y184_Q185insFs

c.552_553ins4

Surrounding Variants

1 paper

NM_001143820.2

p.P183S

c.547C>T

1 paper

NM_001143820.2

p.G188A

c.563G>C

1 paper

NM_005238.4

p.E135K

c.403G>A

1 paper

NM_001143820.2

p.A192T

c.574G>A

1 paper

NM_001143820.2

p.E179Splc

c.536-8C>T

1 paper

NM_005238.4

p.Y149*

c.447T>G

1 paper

NM_005238.4

p.Y149*

c.447T>A

1 paper

NM_001143820.2

p.E195A

c.584A>C

1 paper

NM_001143820.2

p.Y202H

c.604T>C

1 paper

NM_001143820.2

p.Y202F

c.605A>T

1 paper

NM_001143820.2

p.Y206C

c.617A>G

1 paper

NM_001143820.2

p.A211T

c.631G>A