Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.L7L

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.L7L
c.19C>T
Surrounding Variants
2 papers
NM_001928.4
p.R6S
c.16C>A
1 paper
NM_001928.4
p.R6del1
c.16_18delCGC
1 paper
NM_001928.4
p.E5*
c.13G>T
1 paper
NM_001928.4
p.L10P
c.29T>C
1 paper
NM_001928.4
p.S3insFs
c.9dupC
1 paper
NM_001928.4
p.H2D
c.4C>G
1 paper
NM_001928.4
p.M1T
c.2T>C
1 paper
NM_001928.4
p.A15A
c.45G>T
1 paper
NM_001928.4
p.A16_C18del3
c.46_53del9
1 paper
NM_001928.4
p.A16T
c.46G>A
1 paper
NM_001928.4
p.R23G
c.67C>G
1 paper
NM_001928.4
p.R23P
c.68G>C
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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."