Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.R25Q

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.R25Q
c.74G>A
Surrounding Variants
1 paper
NM_001928.4
p.G24A
c.71G>C
1 paper
NM_001928.4
p.R23P
c.68G>C
1 paper
NM_001928.4
p.R23G
c.67C>G
1 paper
NM_001928.4
p.E31E
c.93G>A
1 paper
NM_001928.4
p.E33V
c.98A>T
1 paper
NM_001928.4
p.A36T
c.106G>A
1 paper
NM_001928.4
p.P38L
c.113C>T
2 papers
NM_001928.4
p.M40R
c.119T>G
1 paper
NM_001928.4
p.M40I
c.120G>A
1 paper
NM_001928.4
p.M40I
c.120G>C
1 paper
NM_001928.4
p.M40I
c.120G>T
1 paper
NM_001928.4
p.A41P
c.121G>C
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