Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.E176V

CDAN1

212 papers

RefSeq Summary

This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia typ...

Pfam Domains

Codanin-1_Caa 784–899UCSCCodanin-1 C-terminus

Gene Aliases

HGNC Name

codanin 1

HGNC Alias Symbols

CDA-I; CDAI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138477.4
p.E176V
c.527A>T
Surrounding Variants
1 paper
NM_138477.4
p.L175V
c.523C>G
2 papers
NM_138477.4
p.F178Y
c.533T>A
1 paper
NM_138477.4
p.P170R
c.509C>G
1 paper
NM_138477.4
p.S183L
c.548C>T
1 paper
NM_138477.4
p.V184_P185insFs
c.552_553insG
1 paper
NM_138477.4
p.P185fs
c.553_554fs
1 paper
NM_138477.4
p.P185fs
c.553_554fs
1 paper
NM_138477.4
p.L166delFs
c.497delA
1 paper
NM_138477.4
p.P186insFs
c.558dupC
1 paper
NM_138477.4
p.G187fs
c.559_560fs
1 paper
NM_138477.4
p.V184_G187delFs
c.552_561del10
1 paper
NM_138477.4
p.T189fs
c.565_566fs
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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."