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

3 papers

NM_004452.4

p.A110V

c.329C>T

Surrounding Variants

1 paper

NM_004452.4

p.D108Y

c.322G>T

1 paper

NM_001379180.1

p.H135delFs

c.405delC

1 paper

NM_004452.4

p.L104F

c.310C>T

1 paper

NM_004452.4

p.C120C

c.360C>T

1 paper

NM_001379180.1

p.K149*

c.445A>T

1 paper

NM_001379180.1

p.T151A

c.451A>G

1 paper

NM_004452.4

p.G133Splc

c.397+2T>G

1 paper

NM_004452.4

p.E77E

c.231G>A

1 paper

NM_001379180.1

p.C93R

c.277T>C

1 paper

NM_001379180.1

p.A86G

c.257C>G

1 paper

NM_001379180.1

p.S79W

c.236C>G

1 paper

NM_004452.4

p.D57Y

c.169G>T