Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.D528E

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.D528E
c.1584T>A
Surrounding Variants
1 paper
NM_001312909.2
p.D528E
c.1584T>G
13 papers
NM_001312909.2
p.D528G
c.1583A>G
1 paper
NM_001312909.2
p.D528H
c.1582G>C
1 paper
NM_001312909.2
p.I530V
c.1588A>G
8 papers
NM_001312909.2
p.P527T
c.1579C>A
1 paper
NM_001312909.2
p.P527fs
c.1579_1580fs
1 paper
NM_001312909.2
p.N526delFs
c.1578delC
1 paper
NM_001312909.2
p.D533Y
c.1597G>T
1 paper
NM_001312909.2
p.D533delFs
c.1598_1599delAC
5 papers
NM_001312909.2
p.E535G
c.1604A>G
2 papers
NM_001312909.2
p.F520C
c.1559T>G
8 papers
NM_001312909.2
p.S541P
c.1621T>C
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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."