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

2 papers

NM_001143820.2

p.P12A

c.34C>G

Surrounding Variants

2 papers

NM_001143820.2

p.P12L

c.35C>T

1 paper

NM_001143820.2

p.P12R

c.35C>G

1 paper

NM_001143820.2

p.V13I

c.37G>A

3 papers

NM_001143820.2

p.V13D

c.38T>A

1 paper

NM_001143820.2

p.V13V

c.39C>T

1 paper

NM_001143820.2

p.A8delFs

c.22delC

2 papers

NM_001143820.2

p.A17T

c.49G>A

1 paper

NM_001143820.2

p.A17delFs

c.49delC

1 paper

NM_001143820.2

p.D6A

c.17A>C

1 paper

NM_001143820.2

p.D6N

c.16G>A

1 paper

NM_001143820.2

p.F4insFs

c.11dupT

1 paper

NM_001143820.2

p.R19G

c.55C>G