Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R1042W

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
17 papers
NM_138477.4
p.R1042W
c.3124C>T
Surrounding Variants
1 paper
NM_138477.4
p.R1042Q
c.3125G>A
6 papers
NM_138477.4
p.D1043V
c.3128A>T
1 paper
NM_138477.4
p.D1045H
c.3133G>C
3 papers
NM_138477.4
p.S1036F
c.3107C>T
1 paper
NM_138477.4
p.T1063A
c.3187A>G
1 paper
NM_138477.4
p.T1063M
c.3188C>T
3 papers
NM_138477.4
p.R1065W
c.3193C>T
2 papers
NM_138477.4
p.R1065Q
c.3194G>A
2 papers
NM_138477.4
p.R1067H
c.3200G>A
1 paper
NM_138477.4
p.Q1068_F1069Splc
c.3204+22C>T
1 paper
NM_138477.4
p.F1069V
c.3205T>G
1 paper
NM_138477.4
p.P1072T
c.3214C>A
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