Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.A397V

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.A397V
c.1190C>T
Surrounding Variants
1 paper
NM_001987.5
p.A397D
c.1190C>A
1 paper
NM_001987.5
p.A397_R399insFs
c.1191_1195dup5
1 paper
NM_001987.5
p.R396K
c.1187G>A
2 papers
NM_001987.5
p.R396T
c.1187G>C
1 paper
NM_001987.5
p.L398Q
c.1193T>A
5 papers
NM_001987.5
p.L398P
c.1193T>C
2 papers
NM_001987.5
p.L398R
c.1193T>G
12 papers
NM_001987.5
p.R396G
c.1186A>G
1 paper
NM_001987.5
p.L398L
c.1194G>A
1 paper
NM_001987.5
p.R399S
c.1195C>A
1 paper
NM_001987.5
p.R399ins1
c.1196_1197insTTG
1 paper
NM_001987.5
p.R399fs
c.1195_1196fs
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