Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R408T

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.R408T
c.1223G>C
Surrounding Variants
3 papers
NM_001987.5
p.R408W
c.1222A>T
1 paper
NM_001987.5
p.K409insFs
c.1226_1227insA
1 paper
NM_001987.5
p.K409E
c.1225A>G
1 paper
NM_001987.5
p.K409T
c.1226A>C
3 papers
NM_001987.5
p.K409R
c.1226A>G
1 paper
NM_001987.5
p.I407T
c.1220T>C
1 paper
NM_001987.5
p.K409N
c.1227G>C
1 paper
NM_001987.5
p.K409N
c.1227G>T
1 paper
NM_001987.5
p.E410Q
c.1228G>C
1 paper
NM_001987.5
p.E410delins
c.1228_1229delinsCC
3 papers
NM_001987.5
p.I407del1
c.1219_1220delATC
1 paper
NM_001987.5
p.E410A
c.1229A>C
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