Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.Q596R

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.Q596R
c.1787A>G
Surrounding Variants
2 papers
NM_138477.4
p.E597del1
c.1789_1790delCTC
9 papers
NM_138477.4
p.N599S
c.1796A>G
1 paper
NM_138477.4
p.M588T
c.1763T>C
1 paper
NM_138477.4
p.L587F
c.1759C>T
1 paper
NM_138477.4
p.P608S
c.1822C>T
2 papers
NM_138477.4
p.Q582*
c.1744C>T
1 paper
NM_138477.4
p.V617I
c.1849G>A
1 paper
NM_138477.4
p.Q620_G621Splc
c.1860+2T>G
1 paper
NM_138477.4
p.Q620_G621Splc
c.1860+2T>C
3 papers
NM_138477.4
p.Q620_G621Splc
c.1860+5G>A
1 paper
NM_138477.4
p.E622K
c.1864G>A
5 papers
NM_138477.4
p.R623W
c.1867C>T
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