Varaico: Literature-Extracted Genetic Variants

Gene:ESRRG
Variant:p.E196K

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.E196K
c.586G>A
Surrounding Variants
1 paper
NM_001438.4
p.L194L
c.582G>A
1 paper
NM_001438.4
p.G192D
c.575G>A
1 paper
NM_001438.4
p.K190*
c.568A>T
1 paper
NM_001438.4
p.R184C
c.550C>T
1 paper
NM_001438.4
p.A182A
c.546T>A
1 paper
NM_001438.4
p.C180Y
c.539G>A
1 paper
NM_001438.4
p.S179A
c.535T>G
1 paper
NM_001438.4
p.K178E
c.532A>G
2 papers
NM_001438.4
p.T167M
c.500C>T
1 paper
NM_001438.4
p.N159K
c.477T>G
1 paper
NM_001438.4
p.N159N
c.477T>C
1 paper
NM_001438.4
p.N159K
c.477T>A
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