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.T161P

c.481A>C

Surrounding Variants

1 paper

NM_014249.4

p.T161fs

c.481_482fs

5 papers

NM_014249.4

p.T161fs

c.481_482fs

17 papers

NM_014249.4

p.T161delFs

c.481delA

2 papers

NM_014249.4

p.P162_M174delFs

c.485_521del37

1 paper

NM_014249.4

p.G159insFs

c.477dupC

1 paper

NM_014249.4

p.G159S

c.475G>A

8 papers

NM_014249.4

p.M163T

c.488T>C

2 papers

NM_014249.4

p.R158Q

c.473G>A

1 paper

NM_014249.4

p.R158delFs

c.473delG

1 paper

NM_014249.4

p.A166delFs

c.496delG

1 paper

NM_014249.4

p.R167K

c.500G>A

1 paper

NM_014249.4

p.G154E

c.461G>A