Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.R500H

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.R500H
c.1499G>A
Surrounding Variants
1 paper
NM_001312909.2
p.V501D
c.1502T>A
1 paper
NM_001312909.2
p.Q498R
c.1493A>G
2 papers
NM_001312909.2
p.R493Q
c.1478G>A
13 papers
NM_001312909.2
p.Y511H
c.1531T>C
1 paper
NM_001312909.2
p.P489P
c.1467T>G
2 papers
NM_001312909.2
p.P489S
c.1465C>T
3 papers
NM_001312909.2
p.M514I
c.1542G>A
3 papers
NM_001312909.2
p.M514I
c.1542G>C
3 papers
NM_001312909.2
p.M514I
c.1542G>T
5 papers
NM_001312909.2
p.C485F
c.1454G>T
1 paper
NM_001312909.2
p.A484D
c.1451C>A
1 paper
NM_001312909.2
p.A484insFs
c.1450_1451insA
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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."