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.G333A

c.998G>C

Surrounding Variants

1 paper

NM_005238.4

p.P334A

c.1000C>G

1 paper

NM_005238.4

p.P334Q

c.1001C>A

3 papers

NM_001143820.2

p.G375Splc

c.1124-1G>C

1 paper

NM_001143820.2

p.L381L

c.1143A>G

1 paper

NM_001143820.2

p.Q383P

c.1148A>C

1 paper

NM_001143820.2

p.Q383H

c.1149G>T

1 paper

NM_001143820.2

p.Q383H

c.1149G>C

1 paper

NM_001143820.2

p.T390delFs

c.1170delA

1 paper

NM_001143820.2

p.D391fs

c.1171_1172fs

1 paper

NM_001143820.2

p.F397L

c.1189T>C

1 paper

NM_001143820.2

p.F397L

c.1191T>G

1 paper

NM_001143820.2

p.F397L

c.1191T>A