Varaico: Literature-Extracted Genetic Variants

Gene:CDIN1

CDIN1

41 papers

RefSeq Summary

This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in...

Pfam Domains

TPDaa 132–244UCSCProtein of unknown function TPD sequence-motif
TPDaa 132–269UCSCProtein of unknown function TPD sequence-motif

Gene Aliases

HGNC Name

CDAN1 interacting nuclease 1

HGNC Previous Symbol

C15orf41

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
8 papers
NM_001321759.2
p.L178Q
c.533T>A
7 papers
NM_001321759.2
p.Y94C
c.281A>G
5 papers
NM_001321759.2
p.P20R
c.59C>G
4 papers
NM_001321759.2
p.L73V
c.217C>G
4 papers
NM_001321759.2
p.Y94S
c.281A>C
3 papers
NM_001321759.2
p.H230P
c.689A>C
3 papers
NM_001321759.2
p.Y236C
c.707A>G
2 papers
NM_001321759.2
p.S62L
c.185C>T
2 papers
NM_001321759.2
p.C156Y
c.467G>A
1 paper
NM_001321759.2
p.M1V
c.1A>G
1 paper
NM_001321759.2
p.P19Q
c.56C>A
1 paper
NM_001321759.2
p.T21S
c.61A>T
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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."