Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.L915L

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.L915L
c.2743T>C
Surrounding Variants
1 paper
NM_138477.4
p.E916delFs
c.2746delC
1 paper
NM_138477.4
p.E916fs
c.2746_2747fs
2 papers
NM_138477.4
p.I917S
c.2750T>G
1 paper
NM_138477.4
p.G909R
c.2725G>C
1 paper
NM_138477.4
p.G909R
c.2725G>A
1 paper
NM_138477.4
p.G908E
c.2723G>A
8 papers
NM_138477.4
p.G908R
c.2722G>C
8 papers
NM_138477.4
p.G908R
c.2722G>A
2 papers
NM_138477.4
p.L922del1
c.2764_2765delCAG
1 paper
NM_138477.4
p.E907K
c.2719G>A
1 paper
NM_138477.4
p.G926R
c.2776G>C
1 paper
NM_138477.4
p.G926R
c.2776G>A
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