Varaico: Literature-Extracted Genetic Variants

Gene:ESRRB

ESRRB

84 papers

RefSeq Summary

This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq...

Pfam Domains

zf-C4aa 106–175UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 239–421UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

estrogen related receptor beta

HGNC Previous Symbols

ESRL2; DFNB35

Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
6 papers
NM_004452.4
p.V342L
c.1024G>C
6 papers
NM_004452.4
p.V342L
c.1024G>T
6 papers
NM_004452.4
p.L347P
c.1040T>C
5 papers
NM_004452.4
p.L320P
c.959T>C
4 papers
NM_004452.4
p.E340del1
c.1018_1020delGAG
3 papers
NM_004452.4
p.R6G
c.16A>G
3 papers
NM_004452.4
p.A110V
c.329C>T
3 papers
NM_004452.4
p.Y305H
c.913T>C
3 papers
NM_004452.4
p.E340_V342insFs
c.1018_1024dup7
3 papers
NM_004452.4
p.R382C
c.1144C>T
3 papers
NM_004452.4
p.P386S
c.1156C>T
3 papers
NM_004452.4
p.T389M
c.1166C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."