Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.K92N

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
4 papers
NM_001928.4
p.K92N
c.276G>T
Surrounding Variants
1 paper
NM_001928.4
p.K92R
c.275A>G
1 paper
NM_001928.4
p.Y95fs
c.283_284fs
1 paper
NM_001928.4
p.Y95*
c.285C>A
1 paper
NM_001928.4
p.D96delFs
c.286delG
1 paper
NM_001317335.2
p.E96fs
c.286_287fs
1 paper
NM_001317335.2
p.E96delFs
c.286delG
1 paper
NM_001928.4
p.V97M
c.289G>A
1 paper
NM_001928.4
p.A100T
c.298G>A
1 paper
NM_001928.4
p.H83L
c.248A>T
1 paper
NM_001928.4
p.D105N
c.313G>A
1 paper
NM_001928.4
p.D105H
c.313G>C
1 paper
NM_001928.4
p.V78A
c.233T>C
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