Varaico: Literature-Extracted Genetic Variants

Gene:ERG
Variant:p.L133L

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.L133L
c.397C>T
Surrounding Variants
1 paper
NM_182918.4
p.L133P
c.398T>C
1 paper
NM_182918.4
p.D130_L133delins
c.390_397delinsGCCCC
2 papers
NM_182918.4
p.T132M
c.395C>T
1 paper
NM_182918.4
p.L133_W134insFs
c.399_400insC
1 paper
NM_182918.4
p.W134insFs
c.400_401ins4
1 paper
NM_182918.4
p.W134ins2
c.400_401ins6
1 paper
NM_182918.4
p.W134R
c.400T>C
1 paper
NM_182918.4
p.S135C
c.403A>T
1 paper
NM_182918.4
p.S135T
c.404G>C
1 paper
NM_182918.4
p.D130N
c.388G>A
1 paper
NM_182918.4
p.D137H
c.409G>C
1 paper
NM_182918.4
p.D137N
c.409G>A
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