Varaico: Literature-Extracted Genetic Variants

Gene:ERG
Variant:p.D175H

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.D175H
c.523G>C
Surrounding Variants
1 paper
NM_182918.4
p.K173R
c.518A>G
1 paper
NM_182918.4
p.K173Q
c.517A>C
1 paper
NM_182918.4
p.K170E
c.508A>G
1 paper
NM_182918.4
p.K166_C169del0
c.498_506del9
1 paper
NM_182918.4
p.L168delFs
c.504delC
1 paper
NM_182918.4
p.P181A
c.541C>G
1 paper
NM_182918.4
p.L168fs
c.502_503fs
1 paper
NM_182918.4
p.P181P
c.543C>T
1 paper
NM_182918.4
p.L168L
c.502C>T
3 papers
NM_182918.4
p.S182fs
c.544_545fs
1 paper
NM_182918.4
p.P181delFs
c.543delG
1 paper
NM_004449.4
p.Y190D
c.568T>G
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