Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.Y621D

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
12 papers
NM_198947.4
p.Y621D
c.1861T>G
Surrounding Variants
7 papers
NM_198947.4
p.T625P
c.1873A>C
11 papers
NM_198947.4
p.T625N
c.1874C>A
14 papers
NM_198947.4
p.R627G
c.1879A>G
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
10 papers
NM_198947.4
p.S628R
c.1882A>C
1 paper
NM_198947.4
p.S628G
c.1882A>G
16 papers
NM_198947.4
p.S628N
c.1883G>A
10 papers
NM_198947.4
p.S628R
c.1884T>A
10 papers
NM_198947.4
p.S628R
c.1884T>G
2 papers
NM_198947.4
p.F629S
c.1886T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."