Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L117fs

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.L117fs
c.349_350fs
Surrounding Variants
4 papers
NM_001987.5
p.L117F
c.349C>T
1 paper
NM_001987.5
p.L117P
c.350T>C
1 paper
NM_001987.5
p.L116P
c.347T>C
1 paper
NM_001987.5
p.Q118fs
c.352_353fs
1 paper
NM_001987.5
p.L116V
c.346C>G
1 paper
NM_001987.5
p.Q118*
c.352C>T
1 paper
NM_001987.5
p.E115_L116insFs
c.345_346insG
1 paper
NM_001987.5
p.L116del1
c.346_347delCTC
1 paper
NM_001987.5
p.H119N
c.355C>A
1 paper
NM_001987.5
p.H119Y
c.355C>T
1 paper
NM_001987.5
p.E115K
c.343G>A
1 paper
NM_001987.5
p.E115fs
c.343_344fs
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