Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S249S

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.S249S
c.747C>T
Surrounding Variants
2 papers
NM_001987.5
p.S249C
c.746C>G
1 paper
NM_001987.5
p.S249F
c.746C>T
1 paper
NM_001987.5
p.E250fs
c.748_749fs
1 paper
NM_001987.5
p.E250*
c.748G>T
1 paper
NM_001987.5
p.E250A
c.749A>C
1 paper
NM_001987.5
p.S249_E250del1
c.746_748delCCG
1 paper
NM_001987.5
p.S251_H252insFs
c.751_755dup5
2 papers
NM_001987.5
p.S248F
c.743C>T
1 paper
NM_001987.5
p.S251T
c.751T>A
1 paper
NM_001987.5
p.S251P
c.751T>C
1 paper
NM_001987.5
p.S251A
c.751T>G
1 paper
NM_001987.5
p.H252delFs
c.754delC
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