Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S307_H308delFs

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.S307_H308delFs
c.921_922delTC
Surrounding Variants
1 paper
NM_001987.5
p.L306delFs
c.916delC
1 paper
NM_001987.5
p.L306fs
c.916_917fs
1 paper
NM_001987.5
p.L306_S307insC
c.916_920ins3
1 paper
NM_001987.5
p.L306_S307ins8
c.916_920ins24
3 papers
NM_001987.5
p.N305_L306insTC
c.913_917ins6
1 paper
NM_001987.5
p.N305_L306ins4
c.913_917ins12
1 paper
NM_001987.5
p.N305_L306ins13
c.913_917ins39
1 paper
NM_001987.5
p.I304_N305insFs
c.912_913insG
2 papers
NM_001987.5
p.S307_H308ins5
c.919_923ins15
1 paper
NM_001987.5
p.S307_H308ins6
c.919_923ins18
1 paper
NM_001987.5
p.I304fs
c.910_911fs
1 paper
NM_001987.5
p.I304fs
c.910_911fs
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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."