Varaico: Literature-Extracted Genetic Variants

Gene:ERG
Variant:p.P401L

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.P401L
c.1202C>T
Surrounding Variants
1 paper
NM_182918.4
p.P401H
c.1202C>A
2 papers
NM_182918.4
p.Q400L
c.1199A>T
1 paper
NM_182918.4
p.H402Q
c.1206C>G
1 paper
NM_182918.4
p.Q400_P401ins4
c.1198_1202ins12
1 paper
NM_182918.4
p.Q400_P401ins6
c.1198_1202ins18
1 paper
NM_182918.4
p.H402Q
c.1206C>A
1 paper
NM_182918.4
p.L399P
c.1196T>C
1 paper
NM_182918.4
p.L399_Q400insC
c.1195_1199ins3
1 paper
NM_182918.4
p.P404fs
c.1210_1211fs
1 paper
NM_182918.4
p.P404S
c.1210C>T
2 papers
NM_182918.4
p.P404A
c.1210C>G
2 papers
NM_182918.4
p.P404L
c.1211C>T
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