Varaico: Literature-Extracted Genetic Variants

ETS2

101 papers

RefSeq Summary

This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. ...

Pfam Domains

SAM_PNTaa 87–170UCSCSterile alpha motif (SAM)/Pointed domain

Ets1_N_flankaa 238–362UCSCEts1 N-terminal flanking region of Ets domain

Etsaa 362–443UCSCEts-domain

Gene Aliases

HGNC Name

ETS proto-oncogene 2, transcription factor

HGNC Previous Names

v-ets erythroblastosis virus E26 oncogene homolog 2 (avian); v-ets avian erythroblastosis virus E26 oncogene homolog 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005239.6

p.S434_K436delFs

c.1302_1306del5

Surrounding Variants

2 papers

NM_005239.6

p.R437C

c.1309C>T

1 paper

NM_005239.6

p.R441H

c.1322G>A

1 paper

NM_005239.6

p.E415K

c.1243G>A

1 paper

NM_005239.6

p.E455K

c.1363G>A

1 paper

NM_005239.6

p.E455V

c.1364A>T

1 paper

NM_005239.6

p.E468Q

c.1402G>C

1 paper

NM_005239.6

p.G359Splc

c.1076-1G>C

1 paper

NM_005239.6

p.G356C

c.1066G>T

2 papers

NM_005239.6

p.P341L

c.1022C>T

1 paper

NM_005239.6

p.S321F

c.962C>T

1 paper

NM_005239.6

p.F311L

c.933C>A

1 paper

NM_005239.6

p.F311L

c.933C>G