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_005238.4

p.K227*

c.679A>T

Surrounding Variants

1 paper

NM_001143820.2

p.K271R

c.812A>G

1 paper

NM_005238.4

p.L214F

c.640C>T

1 paper

NM_001143820.2

p.R287G

c.859C>G

1 paper

NM_001143820.2

p.L254L

c.762C>G

1 paper

NM_001143820.2

p.S251A

c.751T>G

1 paper

NM_001143820.2

p.D248N

c.742G>A

1 paper

NM_001143820.2

p.N247Fs

c.739delinsCCCFs

1 paper

NM_005238.4

p.E202K

c.604G>A

1 paper

NM_001143820.2

p.S242fs

c.724_725fs

1 paper

NM_001143820.2

p.T231R

c.692C>G

1 paper

NM_001143820.2

p.P222L

c.665C>T

1 paper

NM_001143820.2

p.E218delFs

c.652delC