Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.F431S

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
2 papers
NM_198947.4
p.F431S
c.1292T>C
Surrounding Variants
11 papers
NM_198947.4
p.Q430P
c.1289A>C
1 paper
NM_198947.4
p.Y434S
c.1301A>C
9 papers
NM_198947.4
p.K421del1
c.1261_1262delAAG
9 papers
NM_198947.4
p.F416S
c.1247T>C
1 paper
NM_198947.4
p.D379N
c.1135G>A
3 papers
NM_198947.4
p.C488delFs
c.1462delT
3 papers
NM_198947.4
p.C488fs
c.1462_1463fs
1 paper
NM_198947.4
p.R373Q
c.1118G>A
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
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."