Varaico: Literature-Extracted Genetic Variants

Gene:ERG
Variant:p.P49S

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.P49S
c.145C>T
Surrounding Variants
1 paper
NM_182918.4
p.P49A
c.145C>G
1 paper
NM_182918.4
p.P49insFs
c.145_146insA
1 paper
NM_182918.4
p.P49fs
c.145_146fs
1 paper
NM_182918.4
p.P49L
c.146C>T
1 paper
NM_182918.4
p.P49delFs
c.146delG
1 paper
NM_182918.4
p.R50C
c.148C>T
1 paper
NM_182918.4
p.R50G
c.148C>G
1 paper
NM_182918.4
p.R50H
c.149G>A
2 papers
NM_182918.4
p.V51I
c.151G>A
1 paper
NM_182918.4
p.K46delFs
c.136delT
1 paper
NM_182918.4
p.K46R
c.137A>G
1 paper
NM_182918.4
p.P52_Q53del1
c.155_157delGAG
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