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_004452.4

p.V413I

c.1237G>A

Surrounding Variants

1 paper

NM_004452.4

p.T402M

c.1205C>T

1 paper

NM_004452.4

p.E430K

c.1288G>A

1 paper

NM_001379180.1

p.T416P

c.1246A>C

3 papers

NM_004452.4

p.T389M

c.1166C>T

1 paper

NM_001379180.1

p.R409K

c.1226G>A

3 papers

NM_004452.4

p.P386S

c.1156C>T

1 paper

NM_004452.4

p.R382H

c.1145G>A

3 papers

NM_004452.4

p.R382C

c.1144C>T

1 paper

NM_001379180.1

p.H392H

c.1176C>T

1 paper

NM_004452.4

p.D368G

c.1103A>G

1 paper

NM_004452.4

p.D353Splc

c.1058-3C>A

1 paper

NM_001379180.1

p.A371A

c.1113C>T