Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.L326I

FAM111A

122 papers

RefSeq Summary

The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacti...

Pfam Domains

FAM111_Naa 72–267UCSCFAM111, N-terminal domain
Trypsin_2aa 370–555UCSCTrypsin-like peptidase domain

Gene Aliases

HGNC Name

FAM111 trypsin like peptidase A

HGNC Alias Symbols

FLJ22794; KIAA1895

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001312909.2
p.L326I
c.976T>A
Surrounding Variants
1 paper
NM_001312909.2
p.L326L
c.978A>G
5 papers
NM_001312909.2
p.G323E
c.968G>A
1 paper
NM_001312909.2
p.G323W
c.967G>T
1 paper
NM_001312909.2
p.H330Q
c.990T>A
1 paper
NM_001312909.2
p.H330Q
c.990T>G
1 paper
NM_001312909.2
p.T332A
c.994A>G
1 paper
NM_001312909.2
p.M318K
c.953T>A
1 paper
NM_001312909.2
p.K316*
c.946A>T
1 paper
NM_001312909.2
p.M318insFs
c.952dupA
1 paper
NM_001312909.2
p.K315Q
c.943A>C
10 papers
NM_001312909.2
p.T338A
c.1012A>G
1 paper
NM_001312909.2
p.N340fs
c.1018_1019fs
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