Varaico: Literature-Extracted Genetic Variants

Gene:CDIN1
Variant:p.Y141Y

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
Selected Variant
1 paper
NM_001321759.2
p.Y141Y
c.423T>C
Surrounding Variants
1 paper
NM_001321759.2
p.L136V
c.406C>G
1 paper
NM_001321759.2
p.D147H
c.439G>C
2 papers
NM_001321759.2
p.C156Y
c.467G>A
1 paper
NM_001321759.2
p.H163Y
c.487C>T
1 paper
NM_001321759.2
p.L178M
c.532C>A
8 papers
NM_001321759.2
p.L178Q
c.533T>A
1 paper
NM_001321759.2
p.D182Splc
c.544+1G>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."