Varaico: Literature-Extracted Genetic Variants

Gene:MACIR
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_033211.4
p.M1insFs
c.1_2insG
1 paper
NM_033211.4
p.M1_E2insG
c.1_5ins3
1 paper
NM_033211.4
p.M1L
c.1A>C
1 paper
NM_033211.4
p.M1V
c.1A>G
1 paper
NM_033211.4
p.M1L
c.1A>T
1 paper
NM_033211.4
p.G7E
c.20G>A
1 paper
NM_033211.4
p.N24T
c.71A>C
1 paper
NM_033211.4
p.E30V
c.89A>T
1 paper
NM_033211.4
p.A31G
c.92C>G
1 paper
NM_033211.4
p.E32K
c.94G>A
1 paper
NM_033211.4
p.K33Q
c.97A>C
1 paper
NM_033211.4
p.K33*
c.97A>T
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