Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.P1130L

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
11 papers
NM_138477.4
p.P1130L
c.3389C>T
Surrounding Variants
1 paper
NM_138477.4
p.F1125C
c.3374T>G
3 papers
NM_138477.4
p.F1125S
c.3374T>C
1 paper
NM_138477.4
p.L1117_S1119del3
c.3349_3356del9
1 paper
NM_138477.4
p.T1146insFs
c.3436dupA
1 paper
NM_138477.4
p.T1146fs
c.3436_3437fs
2 papers
NM_138477.4
p.L1113P
c.3338T>C
1 paper
NM_138477.4
p.R1149G
c.3445A>G
1 paper
NM_138477.4
p.R1111P
c.3332G>C
1 paper
NM_138477.4
p.A1110T
c.3328G>A
1 paper
NM_138477.4
p.R1104_E1106del3
c.3310_3317del9
1 paper
NM_138477.4
p.L1105L
c.3313C>T
1 paper
NM_138477.4
p.Q1102R
c.3305A>G
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