Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.G412_Q413insGA

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
1 paper
NM_001987.5
p.G412_Q413insGA
c.1234_1238ins6
Surrounding Variants
1 paper
NM_001987.5
p.G412R
c.1234G>A
1 paper
NM_001987.5
p.G412R
c.1234G>C
2 papers
NM_001987.5
p.G412E
c.1235G>A
1 paper
NM_001987.5
p.P411R
c.1232C>G
1 paper
NM_001987.5
p.Q413fs
c.1237_1238fs
1 paper
NM_001987.5
p.P411S
c.1231C>T
1 paper
NM_001987.5
p.Q413*
c.1237C>T
3 papers
NM_001987.5
p.Q413delFs
c.1238delA
1 paper
NM_001987.5
p.E410D
c.1230G>C
1 paper
NM_001987.5
p.E410D
c.1230G>T
1 paper
NM_001987.5
p.E410A
c.1229A>C
1 paper
NM_001987.5
p.E410G
c.1229A>G
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