Varaico: Literature-Extracted Genetic Variants

Gene:ERG
Variant:p.L408R

ERG

609 papers

RefSeq Summary

This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferatio...

Pfam Domains

SAM_PNTaa 115–199UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 286–367UCSCEts-domain

Gene Aliases

HGNC Name

ETS transcription factor ERG

HGNC Alias Symbols

erg-3; p55

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182918.4
p.L408R
c.1223T>G
Surrounding Variants
1 paper
NM_182918.4
p.Y409H
c.1225T>C
2 papers
NM_182918.4
p.S407P
c.1219T>C
1 paper
NM_182918.4
p.Y411D
c.1231T>G
2 papers
NM_182918.4
p.E405*
c.1213G>T
1 paper
NM_182918.4
p.Y411delFs
c.1232delT
1 paper
NM_182918.4
p.P404fs
c.1210_1211fs
1 paper
NM_182918.4
p.P404P
c.1212G>A
1 paper
NM_182918.4
p.P403delFs
c.1209delG
1 paper
NM_182918.4
p.P412S
c.1234C>T
2 papers
NM_182918.4
p.P404L
c.1211C>T
1 paper
NM_182918.4
p.P412L
c.1235C>T
1 paper
NM_182918.4
p.P404fs
c.1210_1211fs
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