Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.A6T

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.A6T
c.16G>A
Surrounding Variants
1 paper
NM_001987.5
p.A6P
c.16G>C
1 paper
NM_001987.5
p.A6_Q7delFs
c.18_19delTC
2 papers
NM_001987.5
p.A6D
c.17C>A
1 paper
NM_001987.5
p.A6G
c.17C>G
5 papers
NM_001987.5
p.A6V
c.17C>T
1 paper
NM_001987.5
p.A6insFs
c.16dupG
1 paper
NM_001987.5
p.A6_S9del4
c.16_26del12
1 paper
NM_001987.5
p.P5H
c.14C>A
1 paper
NM_001987.5
p.P5R
c.14C>G
2 papers
NM_001987.5
p.A6A
c.18T>A
2 papers
NM_001987.5
p.Q7_C8delFs
c.19_23del5
1 paper
NM_001987.5
p.Q7_S9del0
c.19_27del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."