Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.M394fs

ETV6

2,322 papers

RefSeq Summary

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with ...

Pfam Domains

SAM_PNTaa 38–124UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 338–420UCSCEts-domain

Gene Aliases

HGNC Name

ETS variant transcription factor 6

HGNC Alias Symbol

TEL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001987.5
p.M394fs
c.1180_1181fs
Surrounding Variants
1 paper
NM_001987.5
p.M394K
c.1181T>A
1 paper
NM_001987.5
p.K393T
c.1178A>C
1 paper
NM_001987.5
p.K393R
c.1178A>G
1 paper
NM_001987.5
p.K393I
c.1178A>T
1 paper
NM_001987.5
p.M394I
c.1182G>A
1 paper
NM_001987.5
p.M394I
c.1182G>C
1 paper
NM_001987.5
p.M394I
c.1182G>T
1 paper
NM_001987.5
p.K393E
c.1177A>G
2 papers
NM_001987.5
p.S395P
c.1183T>C
1 paper
NM_001987.5
p.S395A
c.1183T>G
2 papers
NM_001987.5
p.S395_R396insFs
c.1185_1186insC
1 paper
NM_001987.5
p.E392D
c.1176G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."