Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

2 papers

NM_001379180.1

p.L320P

c.959T>C

Surrounding Variants

1 paper

NM_004452.4

p.Y295C

c.884A>G

3 papers

NM_004452.4

p.Y305H

c.913T>C

2 papers

NM_004452.4

p.R291L

c.872G>T

1 paper

NM_004452.4

p.I283V

c.847A>G

1 paper

NM_001379180.1

p.E340del1

c.1018_1019delGAG

1 paper

NM_001379180.1

p.E340_Y342insFs

c.1018_1024dup7

5 papers

NM_004452.4

p.L320P

c.959T>C

1 paper

NM_001379180.1

p.Q293*

c.877C>T

1 paper

NM_001379180.1

p.G291V

c.872G>T

1 paper

NM_004452.4

p.R330K

c.989G>A

4 papers

NM_004452.4

p.E340del1

c.1018_1020delGAG

3 papers

NM_004452.4

p.E340_V342insFs

c.1018_1024dup7