Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.G803Splc

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.G803Splc
c.2408-2A>G
Surrounding Variants
1 paper
NM_138477.4
p.G803*
c.2407G>T
1 paper
NM_138477.4
p.G803Splc
c.2408-3C>T
1 paper
NM_138477.4
p.G845E
c.2534G>A
1 paper
NM_138477.4
p.Q847*
c.2539C>T
1 paper
NM_138477.4
p.G803Splc
c.2407+10G>A
1 paper
NM_138477.4
p.G803*
c.2407G>T
1 paper
NM_138477.4
p.C798F
c.2393G>T
1 paper
NM_138477.4
p.L784_D785Splc
c.2353-2A>G
1 paper
NM_138477.4
p.P859fs
c.2575_2576fs
1 paper
NM_138477.4
p.P859delFs
c.2576delG
1 paper
NM_138477.4
p.P860L
c.2579C>T
1 paper
NM_138477.4
p.R863C
c.2587C>T
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