Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R863H

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.R863H
c.2588G>A
Surrounding Variants
1 paper
NM_138477.4
p.R863C
c.2587C>T
1 paper
NM_138477.4
p.R864Q
c.2591G>A
1 paper
NM_138477.4
p.P860L
c.2579C>T
1 paper
NM_138477.4
p.P859delFs
c.2576delG
1 paper
NM_138477.4
p.P859fs
c.2575_2576fs
2 papers
NM_138477.4
p.F868I
c.2602T>A
3 papers
NM_138477.4
p.V869M
c.2605G>A
1 paper
NM_138477.4
p.H880N
c.2638C>A
1 paper
NM_138477.4
p.I881F
c.2641A>T
1 paper
NM_138477.4
p.Q847*
c.2539C>T
1 paper
NM_138477.4
p.G845E
c.2534G>A
3 papers
NM_138477.4
p.T884A
c.2650A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."