Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.C176W

FAM111B

90 papers

RefSeq Summary

This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikil...

Pfam Domains

FAM111_Naa 75–267UCSCFAM111, N-terminal domain
Trypsin_2aa 475–664UCSCTrypsin-like peptidase domain

Gene Aliases

HGNC Name

FAM111 trypsin like peptidase B

HGNC Alias Symbol

CANP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198947.4
p.C176W
c.528T>G
Surrounding Variants
1 paper
NM_198947.4
p.K157*
c.469A>T
1 paper
NM_198947.4
p.E203K
c.607G>A
2 papers
NM_198947.4
p.Y132fs
c.394_395fs
2 papers
NM_198947.4
p.V131fs
c.391_392fs
4 papers
NM_198947.4
p.V131delFs
c.392delT
1 paper
NM_198947.4
p.A224_K227del4
c.670_680del12
1 paper
NM_198947.4
p.R120K
c.359G>A
1 paper
NM_198947.4
p.E239insFs
c.717dupA
1 paper
NM_198947.4
p.E239delFs
c.717delA
1 paper
NM_198947.4
p.K241Q
c.721A>C
1 paper
NM_198947.4
p.L242insFs
c.726dupA
1 paper
NM_198947.4
p.G101delFs
c.303delT
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