Varaico: Literature-Extracted Genetic Variants

NR2E3

434 papers

RefSeq Summary

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic developmen...

Pfam Domains

zf-C4aa 45–115UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 205–395UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group E member 3

HGNC Alias Symbols

PNR; rd7; RP37

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014249.4

p.E181del1

c.541_543delGAA

Surrounding Variants

2 papers

NM_014249.4

p.K185delFs

c.554delA

2 papers

NM_014249.4

p.K185fs

c.553_554fs

1 paper

NM_014249.4

p.M174_T182del9

c.520_545del27

2 papers

NM_014249.4

p.D190N

c.568G>A

1 paper

NM_014249.4

p.D190G

c.569A>G

3 papers

NM_014249.4

p.A191Splc

c.571+2T>C

1 paper

NM_014249.4

p.L169L

c.505C>T

1 paper

NM_014249.4

p.A168T

c.502G>A

1 paper

NM_014249.4

p.R167K

c.500G>A

1 paper

NM_014249.4

p.A166delFs

c.496delG

8 papers

NM_014249.4

p.M163T

c.488T>C

2 papers

NM_014249.4

p.P162_M174delFs

c.485_521del37