Varaico: Literature-Extracted Genetic Variants

Gene:FAM161A
Variant:p.R247K

FAM161A

217 papers

RefSeq Summary

This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that it...

Pfam Domains

FAM161A_Baa 234–592UCSCProtein FAM161A/B

Gene Aliases

HGNC Name

FAM161 centrosomal protein A

HGNC Previous Symbol

RP28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001201543.2
p.R247K
c.740G>A
Surrounding Variants
1 paper
NM_001201543.2
p.M245V
c.733A>G
2 papers
NM_001201543.2
p.Q243delFs
c.728delT
1 paper
NM_001201543.2
p.K251R
c.752A>G
1 paper
NM_001201543.2
p.Q243P
c.728A>C
1 paper
NM_001201543.2
p.P241A
c.721C>G
1 paper
NM_001201543.2
p.P239A
c.715C>G
1 paper
NM_001201543.2
p.M256I
c.768G>T
8 papers
NM_001201543.2
p.I236V
c.706A>G
2 papers
NM_001201543.2
p.T235K
c.704C>A
2 papers
NM_001201543.2
p.D261fs
c.781_782fs
1 paper
NM_001201543.2
p.E263K
c.787G>A
1 paper
NM_001201543.2
p.K230delFs
c.690delT
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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."