Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.F1069V

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.F1069V
c.3205T>G
Surrounding Variants
1 paper
NM_138477.4
p.P1072T
c.3214C>A
1 paper
NM_138477.4
p.A1074D
c.3221C>A
1 paper
NM_138477.4
p.E1075K
c.3223G>A
1 paper
NM_138477.4
p.E1075A
c.3224A>C
2 papers
NM_138477.4
p.H1077R
c.3230A>G
1 paper
NM_138477.4
p.A1079T
c.3235G>A
1 paper
NM_138477.4
p.V1083L
c.3247G>T
1 paper
NM_138477.4
p.V1083L
c.3247G>C
1 paper
NM_138477.4
p.A1086P
c.3256G>C
1 paper
NM_138477.4
p.S1087insFs
c.3259_3260insT
1 paper
NM_138477.4
p.V1090Splc
c.3268+3A>G
1 paper
NM_138477.4
p.Q1068_F1069Splc
c.3204+22C>T
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