Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.A377A

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.A377A
c.1131T>C
Surrounding Variants
1 paper
NM_001987.5
p.A377G
c.1130C>G
13 papers
NM_001987.5
p.R378*
c.1132C>T
4 papers
NM_001987.5
p.A377V
c.1130C>T
1 paper
NM_001987.5
p.R378fs
c.1132_1133fs
7 papers
NM_001987.5
p.A377T
c.1129G>A
4 papers
NM_001987.5
p.R378Q
c.1133G>A
6 papers
NM_001987.5
p.R378P
c.1133G>C
1 paper
NM_001987.5
p.A377delFs
c.1130_1131delCT
1 paper
NM_001987.5
p.L379M
c.1135C>A
3 papers
NM_001987.5
p.L376Q
c.1127T>A
1 paper
NM_001987.5
p.L376P
c.1127T>C
1 paper
NM_001987.5
p.L376R
c.1127T>G
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