Varaico: Literature-Extracted Genetic Variants

Gene:MACIR
Variant:p.S83R

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.S83R
c.249C>G
Surrounding Variants
1 paper
NM_033211.4
p.S83R
c.249C>A
1 paper
NM_033211.4
p.S83R
c.247A>C
1 paper
NM_033211.4
p.E82Q
c.244G>C
1 paper
NM_033211.4
p.E86D
c.258A>T
1 paper
NM_033211.4
p.K76R
c.227A>G
1 paper
NM_033211.4
p.R92H
c.275G>A
1 paper
NM_033211.4
p.L96R
c.287T>G
1 paper
NM_033211.4
p.R102H
c.305G>A
1 paper
NM_033211.4
p.F64I
c.190T>A
1 paper
NM_033211.4
p.R105H
c.314G>A
1 paper
NM_033211.4
p.T109P
c.325A>C
1 paper
NM_033211.4
p.S111C
c.331A>T
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