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.R35Q

c.104G>A

Surrounding Variants

1 paper

NM_001143820.2

p.C38Y

c.113G>A

1 paper

NM_001143820.2

p.Y31*

c.93T>A

1 paper

NM_001143820.2

p.G39R

c.115G>C

1 paper

NM_001143820.2

p.G39S

c.115G>A

1 paper

NM_001143820.2

p.T30insFs

c.89dupC

1 paper

NM_001143820.2

p.N29K

c.87C>G

1 paper

NM_001143820.2

p.N29K

c.87C>A

1 paper

NM_001143820.2

p.N29I

c.86A>T

1 paper

NM_001143820.2

p.N29S

c.86A>G

3 papers

NM_001143820.2

p.Q41P

c.122A>C

1 paper

NM_001143820.2

p.N29T

c.86A>C

1 paper

NM_001143820.2

p.N29H

c.85A>C