Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.L595V

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.L595V
c.1783C>G
Surrounding Variants
1 paper
NM_198947.4
p.L599F
c.1797G>C
1 paper
NM_198947.4
p.L599F
c.1797G>T
12 papers
NM_198947.4
p.Y621D
c.1861T>G
7 papers
NM_198947.4
p.T625P
c.1873A>C
11 papers
NM_198947.4
p.T625N
c.1874C>A
1 paper
NM_198947.4
p.R563L
c.1688G>T
14 papers
NM_198947.4
p.R627G
c.1879A>G
1 paper
NM_198947.4
p.W562*
c.1686G>A
3 papers
NM_198947.4
p.R627T
c.1880G>C
4 papers
NM_198947.4
p.R627S
c.1881A>C
4 papers
NM_198947.4
p.R627S
c.1881A>T
1 paper
NM_198947.4
p.W562*
c.1685G>A
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