Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R46P

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.R46P
c.137G>C
Surrounding Variants
4 papers
NM_138477.4
p.P51L
c.152C>T
6 papers
NM_138477.4
p.F52L
c.154T>C
6 papers
NM_138477.4
p.F52L
c.156C>G
6 papers
NM_138477.4
p.F52L
c.156C>A
1 paper
NM_138477.4
p.Q67Q
c.201G>A
1 paper
NM_138477.4
p.P76L
c.227C>T
1 paper
NM_138477.4
p.G77G
c.231C>T
1 paper
NM_138477.4
p.A81D
c.242C>A
1 paper
NM_138477.4
p.P86S
c.256C>T
3 papers
NM_138477.4
p.Q107L
c.320A>T
1 paper
NM_138477.4
p.T109S
c.325A>T
1 paper
NM_138477.4
p.A111D
c.332C>A
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