Varaico: Literature-Extracted Genetic Variants

Gene:MACIR
Variant:p.R129L

MACIR

13 papers

RefSeq Summary

This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts ...

Pfam Domains

UNC119_bdgaa 3–200UCSCUNC119-binding protein C5orf30 homologue

Gene Aliases

HGNC Name

macrophage immunometabolism regulator

HGNC Previous Symbol

C5orf30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033211.4
p.R129L
c.386G>T
Surrounding Variants
1 paper
NM_033211.4
p.R129Q
c.386G>A
1 paper
NM_033211.4
p.R129W
c.385C>T
1 paper
NM_033211.4
p.R129R
c.387G>A
1 paper
NM_033211.4
p.R128K
c.383G>A
1 paper
NM_033211.4
p.R125W
c.373A>T
1 paper
NM_033211.4
p.K136N
c.408G>C
1 paper
NM_033211.4
p.K136N
c.408G>T
1 paper
NM_033211.4
p.P142A
c.424C>G
1 paper
NM_033211.4
p.P116A
c.346C>G
1 paper
NM_033211.4
p.K147*
c.439A>T
1 paper
NM_033211.4
p.S111C
c.331A>T
1 paper
NM_033211.4
p.K147N
c.441G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."