Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.C229Y

CFD

173 papers

RefSeq Summary

This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement ac...

Pfam Domains

Trypsinaa 26–248UCSCTrypsin

Gene Aliases

HGNC Name

complement factor D

HGNC Previous Symbols

DF; PFD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001928.4
p.C229Y
c.686G>A
Surrounding Variants
1 paper
NM_001928.4
p.C229R
c.685T>C
1 paper
NM_001928.4
p.R227S
c.679C>A
1 paper
NM_001928.4
p.S226delins
c.678delinsTTCT
1 paper
NM_001928.4
p.S226L
c.677C>T
1 paper
NM_001928.4
p.G220D
c.659G>A
1 paper
NM_001928.4
p.R240H
c.719G>A
1 paper
NM_001928.4
p.R240P
c.719G>C
1 paper
NM_001928.4
p.L218P
c.653T>C
5 papers
NM_001928.4
p.C214R
c.640T>C
5 papers
NM_001928.4
p.V213G
c.638T>G
1 paper
NM_001928.4
p.P211P
c.633G>A
5 papers
NM_001928.4
p.I248M
c.744C>G
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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."