Varaico: Literature-Extracted Genetic Variants

Gene:FAM53C
Variant:p.P138delFs

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.P138delFs
c.414delC
Surrounding Variants
1 paper
NM_016605.3
p.H147N
c.439C>A
1 paper
NM_016605.3
p.D126H
c.376G>C
1 paper
NM_016605.3
p.V125M
c.373G>A
2 papers
NM_016605.3
p.V123L
c.367G>C
1 paper
NM_016605.3
p.P112S
c.334C>T
1 paper
NM_016605.3
p.P184P
c.552A>G
1 paper
NM_016605.3
p.P87S
c.259C>T
1 paper
NM_016605.3
p.P188L
c.563C>T
1 paper
NM_016605.3
p.R83Q
c.248G>A
1 paper
NM_016605.3
p.R204G
c.610C>G
1 paper
NM_016605.3
p.W50S
c.149G>C
1 paper
NM_016605.3
p.Q228K
c.682C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."