Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.I118K

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
2 papers
NM_001312909.2
p.I118K
c.353T>A
Surrounding Variants
2 papers
NM_001312909.2
p.Q122*
c.364C>T
1 paper
NM_001312909.2
p.L111H
c.332T>A
2 papers
NM_001312909.2
p.R129C
c.385C>T
1 paper
NM_001312909.2
p.S103S
c.309C>T
1 paper
NM_001312909.2
p.N101K
c.303T>A
1 paper
NM_001312909.2
p.N101K
c.303T>G
1 paper
NM_001312909.2
p.H98R
c.293A>G
4 papers
NM_001312909.2
p.L94fs
c.280_281fs
3 papers
NM_001312909.2
p.K93_L96delFs
c.279_288del10
1 paper
NM_001312909.2
p.S145I
c.434G>T
1 paper
NM_001312909.2
p.I155_E166del12
c.463_497del36
1 paper
NM_001312909.2
p.I155N
c.464T>A
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