Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.S45T

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.S45T
c.133T>A
Surrounding Variants
1 paper
NM_001312909.2
p.T52_Q56del0
c.155_166del12
1 paper
NM_001312909.2
p.C36Y
c.107G>A
1 paper
NM_001312909.2
p.Q33*
c.97C>T
1 paper
NM_001312909.2
p.A57D
c.170C>A
1 paper
NM_001312909.2
p.Q32E
c.94C>G
1 paper
NM_001312909.2
p.Q32*
c.94C>T
1 paper
NM_001312909.2
p.R59K
c.176G>A
1 paper
NM_001312909.2
p.V28I
c.82G>A
1 paper
NM_001312909.2
p.N66_P67del2
c.196_200del6
1 paper
NM_001312909.2
p.N75I
c.224A>T
1 paper
NM_001312909.2
p.R76_T81del6
c.226_242del18
1 paper
NM_001312909.2
p.R76delFs
c.228delG
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