Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.M40I

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.M40I
c.120G>A
Surrounding Variants
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
2 papers
NM_001928.4
p.M40R
c.119T>G
1 paper
NM_001928.4
p.A41E
c.122C>A
6 papers
NM_001928.4
p.S42*
c.125C>A
1 paper
NM_001928.4
p.P38L
c.113C>T
1 paper
NM_001928.4
p.V43L
c.127G>C
1 paper
NM_001928.4
p.Q44_H49ins2
c.130_147dup18
1 paper
NM_001928.4
p.A36T
c.106G>A
1 paper
NM_001928.4
p.G47R
c.139G>C
1 paper
NM_001928.4
p.G47D
c.140G>A
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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."