Varaico: Literature-Extracted Genetic Variants

ETV7

52 papers

RefSeq Summary

The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a vari...

Pfam Domains

SAM_PNTaa 40–117UCSCSterile alpha motif (SAM)/Pointed domain

Etsaa 223–305UCSCEts-domain

Gene Aliases

HGNC Name

ETS variant transcription factor 7

HGNC Alias Symbols

TEL2; TEL-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016135.4

p.P18L

c.53C>T

Surrounding Variants

1 paper

NM_016135.4

p.S12T

c.35G>C

1 paper

NM_016135.4

p.S12N

c.35G>A

1 paper

NM_016135.4

p.A26A

c.78C>A

1 paper

NM_016135.4

p.R48Splc

c.143-2359G>A

1 paper

NM_016135.4

p.R48R

c.144C>A

1 paper

NM_016135.4

p.D58H

c.172G>C

1 paper

NM_016135.4

p.W62R

c.184T>A

1 paper

NM_016135.4

p.W65*

c.194G>A

1 paper

NM_016135.4

p.W65*

c.195G>A

1 paper

NM_016135.4

p.Q68Q

c.204G>A

1 paper

NM_016135.4

p.A76V

c.227C>T

3 papers

NM_016135.4

p.G79R

c.235G>C