Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1

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
1–12 of 279 variants
17 papers
NM_138477.4
p.R714W
c.2140C>T
17 papers
NM_138477.4
p.R1042W
c.3124C>T
11 papers
NM_138477.4
p.P672L
c.2015C>T
11 papers
NM_138477.4
p.P1130L
c.3389C>T
9 papers
NM_138477.4
p.N599S
c.1796A>G
8 papers
NM_138477.4
p.R725W
c.2173C>T
8 papers
NM_138477.4
p.G908R
c.2722G>C
8 papers
NM_138477.4
p.G908R
c.2722G>A
6 papers
NM_138477.4
p.F52L
c.154T>C
6 papers
NM_138477.4
p.F52L
c.156C>G
6 papers
NM_138477.4
p.F52L
c.156C>A
6 papers
NM_138477.4
p.R687C
c.2059C>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."