Varaico: Literature-Extracted Genetic Variants

Gene:FAM53C
Variant:p.T346A

FAM53C

29 papers

RefSeq Summary

The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results i...

Pfam Domains

FAM53aa 1–307UCSCFamily of FAM53

Gene Aliases

HGNC Name

family with sequence similarity 53 member C

HGNC Previous Names

chromosome 5 open reading frame 6; family with sequence similarity 53, member C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016605.3
p.T346A
c.1036A>G
Surrounding Variants
1 paper
NM_016605.3
p.S335I
c.1004G>T
2 papers
NM_016605.3
p.G367C
c.1099G>T
1 paper
NM_016605.3
p.R374Q
c.1121G>A
1 paper
NM_016605.3
p.C377S
c.1129T>A
1 paper
NM_016605.3
p.C377S
c.1130G>C
1 paper
NM_016605.3
p.Q378K
c.1132C>A
1 paper
NM_016605.3
p.R379R
c.1137G>C
1 paper
NM_016605.3
p.R288H
c.863G>A
1 paper
NM_016605.3
p.P252P
c.756C>T
1 paper
NM_016605.3
p.S250G
c.748A>G
1 paper
NM_016605.3
p.R249Q
c.746G>A
1 paper
NM_016605.3
p.P246S
c.736C>T
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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."