Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.N157K

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.N157K
c.471C>G
Surrounding Variants
1 paper
NM_001928.4
p.N157K
c.471C>A
1 paper
NM_001928.4
p.C148*
c.444C>A
1 paper
NM_001928.4
p.D175H
c.523G>C
1 paper
NM_001928.4
p.D175E
c.525C>A
3 papers
NM_001928.4
p.R176P
c.527G>C
2 papers
NM_001928.4
p.C179Y
c.536G>A
1 paper
NM_001928.4
p.W135C
c.405G>C
1 paper
NM_001928.4
p.N180T
c.539A>C
1 paper
NM_001928.4
p.A188T
c.562G>A
2 papers
NM_001928.4
p.S121*
c.362C>A
1 paper
NM_001928.4
p.S121L
c.362C>T
1 paper
NM_001928.4
p.R201delFs
c.601delC
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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."