Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.C488delFs

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
3 papers
NM_198947.4
p.C488delFs
c.1462delT
Surrounding Variants
3 papers
NM_198947.4
p.C488fs
c.1462_1463fs
1 paper
NM_198947.4
p.V491I
c.1471G>A
1 paper
NM_198947.4
p.A513V
c.1538C>T
1 paper
NM_198947.4
p.T518S
c.1552A>T
1 paper
NM_198947.4
p.T518S
c.1553C>G
2 papers
NM_198947.4
p.Y519*
c.1557T>A
2 papers
NM_198947.4
p.Y519*
c.1557T>G
1 paper
NM_198947.4
p.E521K
c.1561G>A
1 paper
NM_198947.4
p.E521Q
c.1561G>C
1 paper
NM_198947.4
p.F522delFs
c.1564delT
1 paper
NM_198947.4
p.N540S
c.1619A>G
1 paper
NM_198947.4
p.Y434S
c.1301A>C
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