Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.E294G

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
3 papers
NM_001312909.2
p.E294G
c.881A>G
Surrounding Variants
1 paper
NM_001312909.2
p.Y300Y
c.900C>T
1 paper
NM_001312909.2
p.S284L
c.851C>T
1 paper
NM_001312909.2
p.R305G
c.913A>G
1 paper
NM_001312909.2
p.E308delFs
c.924delA
1 paper
NM_001312909.2
p.Q280R
c.839A>G
3 papers
NM_001312909.2
p.S279_N288del10
c.835_863del30
4 papers
NM_001312909.2
p.I311F
c.931A>T
1 paper
NM_001312909.2
p.A276A
c.828A>G
1 paper
NM_001312909.2
p.K315Q
c.943A>C
1 paper
NM_001312909.2
p.M318insFs
c.952dupA
1 paper
NM_001312909.2
p.V273fs
c.817_818fs
1 paper
NM_001312909.2
p.K316*
c.946A>T
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