Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B

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
1–12 of 79 variants
16 papers
NM_198947.4
p.S628N
c.1883G>A
14 papers
NM_198947.4
p.R627G
c.1879A>G
12 papers
NM_198947.4
p.Y621D
c.1861T>G
11 papers
NM_198947.4
p.Q430P
c.1289A>C
11 papers
NM_198947.4
p.T625N
c.1874C>A
10 papers
NM_198947.4
p.S628R
c.1882A>C
10 papers
NM_198947.4
p.S628R
c.1884T>A
10 papers
NM_198947.4
p.S628R
c.1884T>G
9 papers
NM_198947.4
p.F416S
c.1247T>C
9 papers
NM_198947.4
p.K421del1
c.1261_1262delAAG
7 papers
NM_198947.4
p.T625P
c.1873A>C
6 papers
NM_198947.4
p.A273fs
c.817_818fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."