Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S321fs

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.S321fs
c.961_962fs
Surrounding Variants
1 paper
NM_001987.5
p.S321F
c.962C>T
1 paper
NM_001987.5
p.V320A
c.959T>C
1 paper
NM_001987.5
p.V320I
c.958G>A
1 paper
NM_001987.5
p.M319_V322delins
c.957_966delinsT
1 paper
NM_001987.5
p.V322A
c.965T>C
1 paper
NM_001987.5
p.V322G
c.965T>G
1 paper
NM_001987.5
p.M319insFs
c.955_956ins8
1 paper
NM_001987.5
p.M319fs
c.955_956fs
1 paper
NM_001987.5
p.M319fs
c.955_956fs
1 paper
NM_001987.5
p.S323P
c.967T>C
1 paper
NM_001987.5
p.S323C
c.968C>G
1 paper
NM_001987.5
p.S323S
c.969C>T
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