Varaico: Literature-Extracted Genetic Variants

Gene:MACIR
Variant:p.T47T

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.T47T
c.141C>G
Surrounding Variants
1 paper
NM_033211.4
p.T47N
c.140C>A
1 paper
NM_033211.4
p.R45Q
c.134G>A
1 paper
NM_033211.4
p.R45W
c.133C>T
1 paper
NM_033211.4
p.G50V
c.149G>T
1 paper
NM_033211.4
p.T39R
c.116C>G
1 paper
NM_033211.4
p.S37C
c.110C>G
1 paper
NM_033211.4
p.K33Q
c.97A>C
1 paper
NM_033211.4
p.K33*
c.97A>T
1 paper
NM_033211.4
p.E32K
c.94G>A
1 paper
NM_033211.4
p.A31G
c.92C>G
1 paper
NM_033211.4
p.F64I
c.190T>A
1 paper
NM_033211.4
p.E30V
c.89A>T
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."