Varaico: Literature-Extracted Genetic Variants

Gene:ESRRG
Variant:p.K40R

ESRRG

54 papers

RefSeq Summary

This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical ...

Pfam Domains

zf-C4aa 126–195UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 126–195UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 255–441UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

estrogen related receptor gamma

HGNC Alias Symbols

NR3B3; ERRg; ERR-gamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001438.4
p.K40R
c.119A>G
Surrounding Variants
1 paper
NM_001438.4
p.T41A
c.121A>G
1 paper
NM_001438.4
p.T41M
c.122C>T
1 paper
NM_001438.4
p.S44A
c.130T>G
1 paper
NM_001438.4
p.A47D
c.140C>A
1 paper
NM_001438.4
p.T50S
c.148A>T
1 paper
NM_001438.4
p.T50M
c.149C>T
1 paper
NM_001438.4
p.R29L
c.86G>T
1 paper
NM_001438.4
p.D28V
c.83A>T
1 paper
NM_001438.4
p.C22Y
c.65G>A
1 paper
NM_001438.4
p.G59C
c.175G>T
1 paper
NM_001438.4
p.S62P
c.184T>C
1 paper
NM_001438.4
p.Q76*
c.226C>T
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