Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.I299K

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.I299K
c.896T>A
Surrounding Variants
1 paper
NM_198947.4
p.H306Y
c.916C>T
1 paper
NM_198947.4
p.H306R
c.917A>G
1 paper
NM_198947.4
p.Q285_N286delFs
c.855_856delGA
2 papers
NM_198947.4
p.E318*
c.952G>T
1 paper
NM_198947.4
p.R321K
c.962G>A
1 paper
NM_198947.4
p.Q276R
c.827A>G
6 papers
NM_198947.4
p.A273fs
c.817_818fs
3 papers
NM_198947.4
p.A273fs
c.817_818fs
1 paper
NM_198947.4
p.K272fs
c.814_815fs
5 papers
NM_198947.4
p.K272insFs
c.816dupA
5 papers
NM_198947.4
p.S269delFs
c.807delA
1 paper
NM_198947.4
p.S269fs
c.805_806fs
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