Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.R352H

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
1 paper
NM_001312909.2
p.R352H
c.1055G>A
Surrounding Variants
1 paper
NM_001312909.2
p.Y359delFs
c.1076delA
1 paper
NM_001312909.2
p.K345E
c.1033A>G
1 paper
NM_001312909.2
p.L360*
c.1079T>A
1 paper
NM_001312909.2
p.L360*
c.1079T>G
9 papers
NM_001312909.2
p.S343del1
c.1027_1028delTCG
1 paper
NM_001312909.2
p.W362*
c.1085G>A
1 paper
NM_001312909.2
p.S341S
c.1023T>G
13 papers
NM_001312909.2
p.S342_S343del1
c.1026_1028delTTC
1 paper
NM_001312909.2
p.N340fs
c.1018_1019fs
10 papers
NM_001312909.2
p.T338A
c.1012A>G
1 paper
NM_001312909.2
p.T367T
c.1101G>A
2 papers
NM_001312909.2
p.T371S
c.1111A>T
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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."