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.P52S

c.154C>T

Surrounding Variants

1 paper

NM_001143820.2

p.C50_Y51delFs

c.150_153del4

1 paper

NM_001143820.2

p.C50*

c.150C>A

1 paper

NM_001143820.2

p.W54C

c.162G>T

1 paper

NM_001143820.2

p.W54C

c.162G>C

6 papers

NM_001143820.2

p.P49L

c.146C>T

1 paper

NM_001143820.2

p.P49S

c.145C>T

1 paper

NM_001143820.2

p.E56Q

c.166G>C

1 paper

NM_001143820.2

p.R48*

c.142A>T

1 paper

NM_001143820.2

p.A58E

c.173C>A

1 paper

NM_001143820.2

p.H45Y

c.133C>T

1 paper

NM_001143820.2

p.Q60*

c.178C>T

1 paper

NM_001143820.2

p.Q60R

c.179A>G