Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.L330L

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.L330L
c.988C>T
Surrounding Variants
1 paper
NM_198947.4
p.T338A
c.1012A>G
1 paper
NM_198947.4
p.R321K
c.962G>A
1 paper
NM_198947.4
p.R339H
c.1016G>A
2 papers
NM_198947.4
p.E318*
c.952G>T
1 paper
NM_198947.4
p.H306R
c.917A>G
1 paper
NM_198947.4
p.H306Y
c.916C>T
1 paper
NM_198947.4
p.I299K
c.896T>A
1 paper
NM_198947.4
p.R373Q
c.1118G>A
1 paper
NM_198947.4
p.Q285_N286delFs
c.855_856delGA
1 paper
NM_198947.4
p.D379N
c.1135G>A
1 paper
NM_198947.4
p.Q276R
c.827A>G
6 papers
NM_198947.4
p.A273fs
c.817_818fs
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