Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R623W

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
5 papers
NM_138477.4
p.R623W
c.1867C>T
Surrounding Variants
1 paper
NM_138477.4
p.E622K
c.1864G>A
1 paper
NM_138477.4
p.A627V
c.1880C>T
2 papers
NM_138477.4
p.A644S
c.1930G>T
1 paper
NM_138477.4
p.L646L
c.1938G>A
1 paper
NM_138477.4
p.P647S
c.1939C>T
3 papers
NM_138477.4
p.R649W
c.1945C>T
1 paper
NM_138477.4
p.G650A
c.1949G>C
1 paper
NM_138477.4
p.E652A
c.1955A>C
1 paper
NM_138477.4
p.P655S
c.1963C>T
1 paper
NM_138477.4
p.T656S
c.1966A>T
1 paper
NM_138477.4
p.T656S
c.1967C>G
1 paper
NM_138477.4
p.G657S
c.1969G>A
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