Varaico: Literature-Extracted Genetic Variants

Gene:CFD

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
1–12 of 90 variants
6 papers
NM_001928.4
p.S42*
c.125C>A
5 papers
NM_001928.4
p.V213G
c.638T>G
5 papers
NM_001928.4
p.C214R
c.640T>C
5 papers
NM_001928.4
p.I248M
c.744C>G
4 papers
NM_001928.4
p.K92N
c.276G>T
3 papers
NM_001928.4
p.R176P
c.527G>C
2 papers
NM_001928.4
p.R6S
c.16C>A
2 papers
NM_001928.4
p.M40R
c.119T>G
2 papers
NM_001928.4
p.E69K
c.205G>A
2 papers
NM_001928.4
p.S121*
c.362C>A
2 papers
NM_001928.4
p.C179Y
c.536G>A
2 papers
NM_001928.4
p.R201W
c.601C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."