Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.T563P

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.T563P
c.1687A>C
Surrounding Variants
7 papers
NM_001312909.2
p.Y562S
c.1685A>C
2 papers
NM_001312909.2
p.R569G
c.1705C>G
1 paper
NM_001312909.2
p.R569C
c.1705C>T
36 papers
NM_001312909.2
p.R569H
c.1706G>A
1 paper
NM_001312909.2
p.A554V
c.1661C>T
7 papers
NM_001312909.2
p.I572del1
c.1714_1715delATT
1 paper
NM_001312909.2
p.I572T
c.1715T>C
1 paper
NM_001312909.2
p.G550C
c.1648G>T
1 paper
NM_001312909.2
p.L582_L583del1
c.1746_1748delCCT
1 paper
NM_001312909.2
p.P544fs
c.1630_1631fs
1 paper
NM_001312909.2
p.S543Y
c.1628C>A
10 papers
NM_001312909.2
p.S541Y
c.1622C>A
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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."