Varaico: Literature-Extracted Genetic Variants

NR1H3

115 papers

RefSeq Summary

The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional program...

Pfam Domains

zf-C4aa 102–171UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 249–437UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 1 group H member 3

HGNC Alias Symbols

LXR-a; RLD-1; LXRa

Papers

RefSeq ID

Protein change

DNA change

1–12 of 138 variants

16 papers

NM_005693.4

p.R415Q

c.1244G>A

5 papers

NM_005693.4

p.S99S

c.297C>T

3 papers

NM_005693.4

p.R234Q

c.701G>A

3 papers

NM_005693.4

p.S440C

c.1319C>G

2 papers

NM_005693.4

p.P8L

c.23C>T

2 papers

NM_005693.4

p.S29N

c.86G>A

2 papers

NM_005693.4

p.F122S

c.365T>C

2 papers

NM_005693.4

p.R175H

c.524G>A

2 papers

NM_005693.4

p.G330Splc

c.988+2721T>C

2 papers

NM_005693.4

p.R401*

c.1201C>T

2 papers

NM_005693.4

p.L414R

c.1241T>G

2 papers

NM_005693.4

p.S419S

c.1257C>T