Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.G750C

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
2 papers
NM_138477.4
p.G750C
c.2248G>T
Surrounding Variants
1 paper
NM_138477.4
p.L752F
c.2254C>T
1 paper
NM_138477.4
p.Q754R
c.2261A>G
1 paper
NM_138477.4
p.L729delFs
c.2187delC
1 paper
NM_138477.4
p.L729fs
c.2185_2186fs
4 papers
NM_138477.4
p.R725Q
c.2174G>A
8 papers
NM_138477.4
p.R725W
c.2173C>T
1 paper
NM_138477.4
p.T757K
c.2270C>A
1 paper
NM_138477.4
p.T757delFs
c.2270_2271delTG
1 paper
NM_138477.4
p.F764fs
c.2290_2291fs
1 paper
NM_138477.4
p.F764_L765delFs
c.2291_2294del4
1 paper
NM_138477.4
p.L784_D785Splc
c.2352+8C>T
3 papers
NM_138477.4
p.R725Q
c.2174G>A
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