Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.D379N

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.D379N
c.1135G>A
Surrounding Variants
1 paper
NM_198947.4
p.R373Q
c.1118G>A
9 papers
NM_198947.4
p.F416S
c.1247T>C
1 paper
NM_198947.4
p.R339H
c.1016G>A
1 paper
NM_198947.4
p.T338A
c.1012A>G
9 papers
NM_198947.4
p.K421del1
c.1261_1262delAAG
1 paper
NM_198947.4
p.L330L
c.988C>T
11 papers
NM_198947.4
p.Q430P
c.1289A>C
2 papers
NM_198947.4
p.F431S
c.1292T>C
1 paper
NM_198947.4
p.Y434S
c.1301A>C
1 paper
NM_198947.4
p.R321K
c.962G>A
2 papers
NM_198947.4
p.E318*
c.952G>T
1 paper
NM_198947.4
p.H306R
c.917A>G
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