Varaico: Literature-Extracted Genetic Variants

Gene:FAM50A

FAM50A

25 papers

RefSeq Summary

This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may ...

Pfam Domains

XAP5aa 197–338UCSCXAP5, circadian clock regulator C-terminal domain

Gene Aliases

HGNC Name

family with sequence similarity 50 member A

HGNC Alias Symbols

DXS9928E; XAP5; HXC-26; 9F

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
3 papers
NM_004699.4
p.E254G
c.761A>G
3 papers
NM_004699.4
p.D255N
c.763G>A
3 papers
NM_004699.4
p.D255G
c.764A>G
2 papers
NM_004699.4
p.M41R
c.122T>G
2 papers
NM_004699.4
p.I318N
c.953T>A
1 paper
NM_004699.4
p.G12C
c.34G>T
1 paper
NM_004699.4
p.Q33R
c.98A>G
1 paper
NM_004699.4
p.E37_E38Splc
c.111+29G>A
1 paper
NM_004699.4
p.I45I
c.135T>C
1 paper
NM_004699.4
p.D54insFs
c.161dupA
1 paper
NM_004699.4
p.E136K
c.406G>A
1 paper
NM_004699.4
p.A137V
c.410C>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."