Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.C338_L340delFs

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.C338_L340delFs
c.1014_1020del7
Surrounding Variants
1 paper
NM_001987.5
p.D337Splc
c.1010-1G>A
2 papers
NM_001987.5
p.D337Splc
c.1010-1G>C
1 paper
NM_001987.5
p.C338G
c.1012T>G
1 paper
NM_001987.5
p.C338F
c.1013G>T
1 paper
NM_001987.5
p.R339_L341insFs
c.1015_1021dup7
1 paper
NM_001987.5
p.R339fs
c.1015_1016fs
2 papers
NM_001987.5
p.R339fs
c.1015_1016fs
2 papers
NM_001987.5
p.R339I
c.1016G>T
1 paper
NM_001987.5
p.L340V
c.1018C>G
1 paper
NM_001987.5
p.L341fs
c.1021_1022fs
1 paper
NM_001987.5
p.L341V
c.1021C>G
1 paper
NM_001987.5
p.L341F
c.1021C>T
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