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

1–12 of 178 variants

6 papers

NM_001143820.2

p.P49L

c.146C>T

3 papers

NM_001143820.2

p.V13D

c.38T>A

3 papers

NM_001143820.2

p.Q41P

c.122A>C

3 papers

NM_001143820.2

p.Y184_Q185insFs

c.552_553ins4

3 papers

NM_001143820.2

p.G375Splc

c.1124-1G>C

2 papers

NM_001143820.2

p.M1V

c.1A>G

2 papers

NM_001143820.2

p.P12A

c.34C>G

2 papers

NM_001143820.2

p.P12L

c.35C>T

2 papers

NM_001143820.2

p.A17T

c.49G>A

2 papers

NM_001143820.2

p.V22V

c.66G>C

2 papers

NM_001143820.2

p.V23E

c.68T>A

2 papers

NM_001143820.2

p.A151T

c.451G>A