Varaico: Literature-Extracted Genetic Variants

Gene:CDIN1
Variant:p.R22K

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.R22K
c.65G>A
Surrounding Variants
1 paper
NM_001321759.2
p.T21S
c.62C>G
1 paper
NM_001321759.2
p.T21S
c.61A>T
5 papers
NM_001321759.2
p.P20R
c.59C>G
1 paper
NM_001321759.2
p.P19Q
c.56C>A
1 paper
NM_001321759.2
p.Q30L
c.89A>T
1 paper
NM_001321759.2
p.P33S
c.97C>T
1 paper
NM_001321759.2
p.P33L
c.98C>T
1 paper
NM_001321759.2
p.M1V
c.1A>G
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