Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.L709del1

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
3 papers
NM_138477.4
p.L709del1
c.2125_2126delCAA
Surrounding Variants
1 paper
NM_138477.4
p.V706I
c.2116G>A
17 papers
NM_138477.4
p.R714W
c.2140C>T
1 paper
NM_138477.4
p.L720L
c.2158C>T
2 papers
NM_138477.4
p.E698V
c.2093A>T
2 papers
NM_138477.4
p.E698K
c.2092G>A
1 paper
NM_138477.4
p.L696Q
c.2087T>A
5 papers
NM_138477.4
p.R725W
c.2173C>T
3 papers
NM_138477.4
p.R725Q
c.2174G>A
4 papers
NM_138477.4
p.P694L
c.2081C>T
1 paper
NM_138477.4
p.T692fs
c.2074_2075fs
2 papers
NM_138477.4
p.L691insFs
c.2072dupT
1 paper
NM_138477.4
p.V690A
c.2069T>C
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