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

1 paper

NM_001143820.2

p.H120Q

c.360T>A

Surrounding Variants

1 paper

NM_001143820.2

p.H120Q

c.360T>G

1 paper

NM_001143820.2

p.H120Y

c.358C>T

1 paper

NM_001143820.2

p.W116R

c.346T>C

1 paper

NM_001143820.2

p.W116R

c.346T>A

1 paper

NM_001143820.2

p.K135R

c.404A>G

1 paper

NM_005238.4

p.D94N

c.280G>A

1 paper

NM_001143820.2

p.K141R

c.422A>G

1 paper

NM_001143820.2

p.M144L

c.430A>C

1 paper

NM_001143820.2

p.C150*

c.450C>A

2 papers

NM_001143820.2

p.A151T

c.451G>A

1 paper

NM_001143820.2

p.C150_G153del4

c.448_458del12

1 paper

NM_001143820.2

p.D155A

c.464A>C