Varaico: Literature-Extracted Genetic Variants

Gene:FIBCD1
Variant:p.E16G

FIBCD1

40 papers

RefSeq Summary

FIBCD1 is a conserved type II transmembrane endocytic receptor that binds chitin and is located primarily in the intestinal brush border (Schlosser et al., 2009 [PubMed 19710473]).[supplied by OMIM, A...

Pfam Domains

Fibrinogen_Caa 240–457UCSCFibrinogen beta and gamma chains, C-terminal globular domain

Gene Aliases

HGNC Name

fibrinogen C domain containing 1

HGNC Alias Symbol

FLJ14810

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032843.5
p.E16G
c.47A>G
Surrounding Variants
1 paper
NM_032843.5
p.T8fs
c.22_23fs
1 paper
NM_032843.5
p.Q24_R25Splc
c.73-4G>A
1 paper
NM_032843.5
p.G29S
c.85G>A
1 paper
NM_032843.5
p.P65fs
c.193_194fs
1 paper
NM_032843.5
p.S88W
c.263C>G
1 paper
NM_032843.5
p.R97C
c.289C>T
1 paper
NM_032843.5
p.T120K
c.359C>A
1 paper
NM_032843.5
p.R127Q
c.380G>A
1 paper
NM_032843.5
p.R150*
c.448C>T
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