Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.G413D

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.G413D
c.1238G>A
Surrounding Variants
1 paper
NM_001312909.2
p.Y414N
c.1240T>A
1 paper
NM_001312909.2
p.Y414H
c.1240T>C
3 papers
NM_001312909.2
p.Y414C
c.1241A>G
1 paper
NM_001312909.2
p.Y414F
c.1241A>T
1 paper
NM_001312909.2
p.V427fs
c.1279_1280fs
2 papers
NM_001312909.2
p.P429T
c.1285C>A
1 paper
NM_001312909.2
p.G394R
c.1180G>A
1 paper
NM_001312909.2
p.E432E
c.1296G>A
1 paper
NM_001312909.2
p.G394R
c.1180G>C
1 paper
NM_001312909.2
p.E437Q
c.1309G>C
3 papers
NM_001312909.2
p.D439N
c.1315G>A
1 paper
NM_001312909.2
p.H385L
c.1154A>T
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