Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R687C

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
6 papers
NM_138477.4
p.R687C
c.2059C>T
Surrounding Variants
3 papers
NM_138477.4
p.R688W
c.2062C>T
1 paper
NM_138477.4
p.A689V
c.2066C>T
1 paper
NM_138477.4
p.V690A
c.2069T>C
2 papers
NM_138477.4
p.L691insFs
c.2072dupT
4 papers
NM_138477.4
p.R682*
c.2044C>T
1 paper
NM_138477.4
p.T692fs
c.2074_2075fs
4 papers
NM_138477.4
p.P694L
c.2081C>T
1 paper
NM_138477.4
p.L696Q
c.2087T>A
2 papers
NM_138477.4
p.R677W
c.2029C>T
2 papers
NM_138477.4
p.E698K
c.2092G>A
2 papers
NM_138477.4
p.E698V
c.2093A>T
11 papers
NM_138477.4
p.P672L
c.2015C>T
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